Name1 GHR-webpage1 frequency1 Description1 Related-gene-list1 Synonym-list1 Db-key-list1 key1 reviewed1 published
15q13.3 microdeletion https://ghr.nlm.nih.gov/condition/15q133-microdeletion 15q13.3 microdeletion likely occurs in about 1 in 40,000 people in the html memo related-chromosome name ghr-page 15q13.3 microdeletion syndrome db key 2016-08 2017-12-291
general population. It appears to be more common in people with html:p autosomal dominant 15 https://ghr.nlm.nih.gov/chromosome/15 chromosome 15q13.3 deletion syndrome GTR C2677613
15q24 microdeletion https://ghr.nlm.nih.gov/condition/15q24-microdeletion This condition is very rare; only a few dozen affected individuals have html memo related-chromosome name ghr-page 15q24 deletion db key 2011-09 2017-12-29
been identified. html:p not inherited 15 https://ghr.nlm.nih.gov/chromosome/15 15q24 microdeletion syndrome GTR C3150674
interstitial deletion of chromosome 15q24 db key
GeneReviews mdel15q24
16p11.2 deletion syndrome https://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome Most people tested for the 16p11.2 deletion have come to medical attention html memo related-chromosome name ghr-page autism, susceptibility to, 14A db key 2014-09 2017-12-29
as a result of developmental delay or autistic behaviors. Other individuals with html:p autosomal dominant 16 https://ghr.nlm.nih.gov/chromosome/16 AUTS14A GTR C3150154
the 16p11.2 deletion have no associated health or problems, and so db key
the deletion may never be detected. For this reason, the prevalence of this GTR CN128718
deletion in the general population is difficult to determine but has been html:p db key
estimated at approximately 3 in 10,000. GeneReviews del16p11_2
16p11.2 duplication https://ghr.nlm.nih.gov/condition/16p112-duplication 16p11.2 duplications have been estimated to occur in about 3 in 10,000 html memo related-chromosome name ghr-page 16p11.2 duplication syndrome db key 2016-12 2017-12-29
people. These changes are present in about 4 in 10,000 people who have mental html:p autosomal dominant 16 https://ghr.nlm.nih.gov/chromosome/16 16p11.2 microduplication GTR C3150155
health problems or difficulties with and . Many people with the autism, susceptibility to, 14B db key
duplication are likely never diagnosed because there are many causes of these AUTS14B MeSH D025063
problems, and some people with the duplication have no related health or db key
developmental problems. OMIM 614671
db key
16p12.2 microdeletion https://ghr.nlm.nih.gov/condition/16p122-microdeletion Researchers estimate that about 1 in 2,000 newborns have a 16p12.2 html memo related-chromosome name ghr-page 16p12.1 microdeletion db key 2017-08 2017-12-29
microdeletion and show signs and symptoms of the condition. However, the actual html:p autosomal dominant 16 https://ghr.nlm.nih.gov/chromosome/16 chromosome 16p12.1 deletion syndrome, 520-kb GeneReviews mdel16p12_2
number may be higher because many people with the microdeletion are likely never db key
diagnosed. Some never come to medical attention because they have no related MeSH D025063
health or problems or have only mild signs and symptoms. Others have db key
nonspecific features for which there can be many causes. OMIM 136570
17 alpha-hydroxylase/17,20-lyase deficiency https://ghr.nlm.nih.gov/condition/17-alpha-hydroxylase-17-20-lyase-deficiency 17α-hydroxylase/17,20-lyase deficiency accounts for about 1 percent of html memo related-gene gene-symbol ghr-page 17-alpha-hydroxylase deficiency db key 2016-03 2017-12-29
congenital adrenal hyperplasia cases. It is estimated to occur in 1 in 1 million html:p autosomal recessive CYP17A1 https://ghr.nlm.nih.gov/gene/CYP17A1 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia GTR C0268285
people worldwide. adrenal hyperplasia V db key
combined 17 alpha-hydroxylase/17,20-lyase deficiency MeSH D000312
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency db key
congenital adrenal hyperplasia type 5 OMIM 202110
deficiency of steroid 17-alpha-monooxygenase db key
17-beta hydroxysteroid dehydrogenase 3 deficiency https://ghr.nlm.nih.gov/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiecy 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare disorder. html memo related-gene gene-symbol ghr-page 17-beta hydroxysteroid dehydrogenase III deficiency db key 2008-11 2017-12-29
Researchers have estimated that this condition occurs in approximately 1 in html:p autosomal recessive HSD17B3 https://ghr.nlm.nih.gov/gene/HSD17B3 17-ketosteroid reductase deficiency of testis GTR CN239160
147,000 newborns. It is more common in the Arab population of Gaza, where it 17-KSR deficiency db key
affects 1 in 200 to 300 people. neutral 17-beta-hydroxysteroid oxidoreductase deficiency MeSH D058490
pseudohermaphroditism, male, with gynecomastia db key
testosterone 17-beta-dehydrogenase deficiency OMIM 264300
17β-hydroxysteroid dehydrogenase type 10 deficiency https://ghr.nlm.nih.gov/condition/17beta-hydroxysteroid-dehydrogenase-type-10-de The prevalence of HSD10 deficiency is unknown. At least 11 affected html memo related-gene gene-symbol ghr-page 2-methyl-3-hydroxybutyric aciduria db key 2009-10 2017-12-29
ficiency individuals have been identified. html:p X-linked dominant HSD17B10 https://ghr.nlm.nih.gov/gene/HSD17B10 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency GTR C1845517
2M3HBA db key
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency MeSH D028361
3H2MBD deficiency db key
HSD10 deficiency OMIM 300438
hydroxyacyl-CoA dehydrogenase II deficiency db key
MHBD deficiency SNOMED CT 791000124107
db key
SNOMED CT 801000124108
html:p
17q12 deletion syndrome https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome The worldwide prevalence of 17q12 deletion syndrome is unknown, although html memo related-gene gene-symbol ghr-page 17q12 chromosomal microdeletion db key 2017-04 2017-12-29
the condition appears to be rare. One study estimated that 17q12 deletion html:p autosomal dominant HNF1B https://ghr.nlm.nih.gov/gene/HNF1B 17q12 microdeletion GTR C3281138
syndrome occurs in 1 in 14,500 people in Iceland. related-gene gene-symbol ghr-page 17q12 recurrent deletion syndrome db key
LHX1 https://ghr.nlm.nih.gov/gene/LHX1 deletion 17q12 GeneReviews mdel17q12
html:p related-chromosome name ghr-page recurrent genomic rearrangement in chromosome 17q12 db key
17 https://ghr.nlm.nih.gov/chromosome/17 MeSH D001523
17q12 duplication https://ghr.nlm.nih.gov/condition/17q12-duplication 17q12 duplications appear to be uncommon. Several dozen people with this html memo related-chromosome name ghr-page 17q12 duplication syndrome db key 2017-04 2017-12-29
chromosomal change have been described in the medical literature. html:p autosomal dominant 17 https://ghr.nlm.nih.gov/chromosome/17 17q12 microduplication GTR C3281137
17q12 microduplication syndrome db key
17q12 recurrent duplication GeneReviews dup17q12
html:p chromosome 17q12 duplication syndrome db key
recurrent duplication of 17q12 MeSH D002658
db key
19p13.13 deletion syndrome https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome This condition appears to be rare. About 10 affected individuals have been html memo related-gene gene-symbol ghr-page 19p13.13 microdeletion db key 2016-06 2017-12-29
described in the medical literature. html:p not inherited BEST2 https://ghr.nlm.nih.gov/gene/BEST2 19p13.13 microdeletion syndrome GTR C3150894
related-gene gene-symbol ghr-page chromosome 19p13.13 deletion syndrome db key
CACNA1A https://ghr.nlm.nih.gov/gene/CACNA1A MeSH D025063
html:p related-gene gene-symbol ghr-page db key
CALR https://ghr.nlm.nih.gov/gene/CALR OMIM 613638
related-gene gene-symbol ghr-page db key
* MAST1 https://ghr.nlm.nih.gov/gene/MAST1 Orphanet 357001
related-gene gene-symbol ghr-page
NFIX https://ghr.nlm.nih.gov/gene/NFIX
related-chromosome name ghr-page
html:p 19 https://ghr.nlm.nih.gov/chromosome/19
1p36 deletion syndrome https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome 1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in html memo related-chromosome name ghr-page chromosome 1p36 deletion syndrome db key 2014-01 2017-12-29
10,000 newborns. However, this may be an underestimate because some affected html:p not inherited 1 https://ghr.nlm.nih.gov/chromosome/1 distal monosomy 1p36 GTR C1842870
individuals are likely never diagnosed. monosomy 1p36 syndrome db key
1q21.1 microdeletion https://ghr.nlm.nih.gov/condition/1q211-microdeletion 1q21.1 microdeletion is a rare chromosomal change; only a few dozen html memo related-gene gene-symbol ghr-page 1q21.1 contiguous gene deletion db key 2012-10 2017-12-29
individuals with this deletion have been reported in the medical literature. html:p autosomal dominant ACP6 https://ghr.nlm.nih.gov/gene/ACP6 1q21.1 deletion GTR C2675897
related-gene gene-symbol ghr-page chromosome 1q21.1 deletion syndrome db key
BCL9 https://ghr.nlm.nih.gov/gene/BCL9 chromosome 1q21.1 deletion syndrome, 1.35-Mb GeneReviews mdel1q21_1
related-gene gene-symbol ghr-page db key
CHD1L https://ghr.nlm.nih.gov/gene/CHD1L MeSH D025063
related-gene gene-symbol ghr-page db key
html:p FMO5 https://ghr.nlm.nih.gov/gene/FMO5 OMIM 612474
related-gene gene-symbol ghr-page db key
GJA5 https://ghr.nlm.nih.gov/gene/GJA5 Orphanet 250989
related-gene gene-symbol ghr-page db key
html:p GJA8 https://ghr.nlm.nih.gov/gene/GJA8 SNOMED CT 699305004
related-gene gene-symbol ghr-page
GPR89B https://ghr.nlm.nih.gov/gene/GPR89B
related-gene gene-symbol ghr-page
HYDIN https://ghr.nlm.nih.gov/gene/HYDIN
related-gene gene-symbol ghr-page
PRKAB2 https://ghr.nlm.nih.gov/gene/PRKAB2
related-chromosome name ghr-page
1 https://ghr.nlm.nih.gov/chromosome/1
1q21.1 microduplication https://ghr.nlm.nih.gov/condition/1q211-microduplication 1q21.1 microduplications occur in about 3 in 10,000 individuals in the html memo related-chromosome name ghr-page 1q21.1 duplication db key 2014-11 2017-12-29
general population. Studies suggest that these chromosomal changes are 15 to 20 html:p autosomal dominant 1 https://ghr.nlm.nih.gov/chromosome/1 1q21.1 duplication syndrome GTR C2675891
times more common in people with or . Many db key
people with 1q21.1 microduplications are likely never diagnosed because the MeSH D025063
features of this condition can have a variety of causes. In addition, some db key
people with this chromosomal change have no related health or developmental html:p OMIM 612475
problems that would bring them to medical attention. db key
Orphanet 250994
2-hydroxyglutaric aciduria https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria 2-hydroxyglutaric aciduria is a rare disorder. D-2-HGA and L-2-HGA have html memo related-gene gene-symbol ghr-page 2-HGA db key 2013-08 2017-12-29
each been reported to affect fewer than 150 individuals worldwide. Combined html:p autosomal dominant D2HGDH https://ghr.nlm.nih.gov/gene/D2HGDH GTR C1855995
D,L-2-HGA appears to be even rarer, with only about a dozen reported cases. memo related-gene gene-symbol ghr-page db key
autosomal recessive IDH2 https://ghr.nlm.nih.gov/gene/IDH2 GTR C2746066
related-gene gene-symbol ghr-page db key
html:p L2HGDH https://ghr.nlm.nih.gov/gene/L2HGDH GTR C3150909
related-gene gene-symbol ghr-page db key
SLC25A1 https://ghr.nlm.nih.gov/gene/SLC25A1 GTR C3152055
SNOMED CT 698870008
21-hydroxylase deficiency https://ghr.nlm.nih.gov/condition/21-hydroxylase-deficiency The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 html memo related-gene gene-symbol ghr-page CAH1 db key 2015-03 2017-12-29
newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is html:p autosomal recessive CYP21A2 https://ghr.nlm.nih.gov/gene/CYP21A2 congenital adrenal hyperplasia 1 GTR C0852654
estimated to be 1 in 1,000 individuals. The prevalence of both classic and congenital adrenal hyperplasia due to 21 hydroxylase deficiency db key
non-classic forms varies among different ethnic populations.21-hydroxylase CYP21 deficiency GeneReviews cah
deficiency is one of a group of disorders known as congenital adrenal db key
hyperplasias that impair hormone production and disrupt sexual development. ICD-10-CM E25.0
21-hydroxylase deficiency is responsible for about 95 percent of all cases of html:p db key
congenital adrenal hyperplasia. MeSH D000312
22q11.2 deletion syndrome https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome 22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, html memo related-gene gene-symbol ghr-page 22q11.2DS db key 2013-07 2017-12-29
the condition may actually be more common than this estimate because doctors and html:p autosomal dominant COMT https://ghr.nlm.nih.gov/gene/COMT autosomal dominant Opitz G/BBB syndrome GTR C0012236
researchers suspect it is underdiagnosed due to its variable features. The related-gene gene-symbol ghr-page CATCH22 db key
condition may not be identified in people with mild signs and symptoms, or it TBX1 https://ghr.nlm.nih.gov/gene/TBX1 Cayler cardiofacial syndrome GTR C0220704
may be mistaken for other disorders with overlapping features. related-chromosome name ghr-page conotruncal anomaly face syndrome (CTAF) db key
html:p 22 https://ghr.nlm.nih.gov/chromosome/22 deletion 22q11.2 syndrome GTR C0431406
DiGeorge syndrome db key
Sedlackova syndrome GTR C1801950
Shprintzen syndrome db key
VCFS GeneReviews gr_22q11deletion
velo-cardio-facial syndrome db key
velocardiofacial syndrome ICD-10-CM D82.1
db key
22q11.2 duplication https://ghr.nlm.nih.gov/condition/22q112-duplication The prevalence of the 22q11.2 duplication in the general population is html memo related-chromosome name ghr-page chromosome 22q11.2 duplication syndrome db key 2015-01 2017-12-29
difficult to determine. Because many individuals with this duplication have no html:p autosomal dominant 22 https://ghr.nlm.nih.gov/chromosome/22 chromosome 22q11.2 microduplication syndrome GTR C2675369
associated symptoms, their duplication may never be detected.Most people tested db key
for the 22q11.2 duplication have come to medical attention as a result of GeneReviews dupl22q11
developmental delay or other problems affecting themselves or a family member. html:p db key
In one study, about 1 in 700 people tested for these reasons had the 22q11.2 MeSH D025063
duplication. Overall, more than 60 individuals with the duplication have been db key
identified. OMIM 608363
db key
SNOMED CT 699311001
22q13.3 deletion syndrome https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome At least 500 cases of 22q13.3 deletion syndrome are known. html memo related-gene gene-symbol ghr-page 22q13 deletion syndrome db key 2009-09 2017-12-29
html:p autosomal dominant SHANK3 https://ghr.nlm.nih.gov/gene/SHANK3 deletion 22q13 syndrome GTR C1853490
related-chromosome name ghr-page deletion 22q13.3 syndrome db key
22 https://ghr.nlm.nih.gov/chromosome/22 monosomy 22q13 GeneReviews gr_22q13_3
Phelan-McDermid syndrome db key
2q37 deletion syndrome https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome 2q37 deletion syndrome appears to be a rare condition, although its exact html memo related-chromosome name ghr-page Albright hereditary osteodystrophy-like syndrome db key 2009-04 2017-12-29
prevalence is unknown. Approximately 100 cases have been reported worldwide. html:p not inherited 2 https://ghr.nlm.nih.gov/chromosome/2 brachydactyly-mental retardation syndrome GTR C1838126
db key
3-beta-hydroxysteroid dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency The exact prevalence of 3β-HSD deficiency is unknown. At least 60 affected html memo related-gene gene-symbol ghr-page 3 beta-HSD deficiency db key 2015-04 2017-12-29
individuals have been reported. html:p autosomal recessive HSD3B2 https://ghr.nlm.nih.gov/gene/HSD3B2 3 beta-ol dehydrogenase deficiency GTR C0342471
3-beta–hydroxysteroid dehydrogenase deficiency db key
3b-hydroxysteroid dehydrogenase deficiency ICD-10-CM E25.0
3β-HSD deficiency db key
3β-HSD deficiency congenital adrenal hyperplasia MeSH D000312
3β-hydroxysteroid dehydrogenase deficiency db key
type II 3β-hydroxysteroid dehydrogenase deficiency OMIM 201810
db key
3-hydroxy-3-methylglutaryl-CoA lyase deficiency https://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficienc HMG-CoA lyase deficiency is a rare condition; it has been reported in fewer html memo related-gene gene-symbol ghr-page 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency db key 2017-03 2017-12-29
y than 100 individuals worldwide. Most people diagnosed with this disorder have html:p autosomal recessive HMGCL https://ghr.nlm.nih.gov/gene/HMGCL 3-OH 3-CH3 glutaric aciduria GTR C0268601
been from Saudi Arabia, Portugal, or Spain. 3-OH 3-methyl glutaric aciduria db key
3HMG MeSH D000592
Deficiency of hydroxymethylglutaryl-CoA lyase db key
HMG OMIM 246450
html:p HMG-CoA lyase deficiency db key
Hydroxymethylglutaric aciduria Orphanet 20
db key
3-hydroxyacyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency The exact incidence of 3-hydroxyacyl-CoA dehydrogenase deficiency is html memo related-gene gene-symbol ghr-page 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency db key 2010-04 2017-12-29
unknown; it has been reported in only a small number of people worldwide. html:p autosomal recessive HADH https://ghr.nlm.nih.gov/gene/HADH 3-hydroxyacyl-coenzyme A dehydrogenase deficiency GTR C1291230
deficiency of 3-hydroxyacyl-CoA dehydrogenase db key
HAD deficiency MeSH D008052
html:p HADH deficiency db key
HADHSC deficiency OMIM 231530
L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency db key
M/SCHAD deficiency Orphanet 71212
SCHAD deficiency db key
SNOMED CT 124122005
html:p
3-M syndrome https://ghr.nlm.nih.gov/condition/3-m-syndrome 3-M syndrome is a rare disorder. About 50 individuals with this disorder html memo related-gene gene-symbol ghr-page 3-MSBN db key 2008-06 2017-12-29
have been identified worldwide. html:p autosomal recessive CUL7 https://ghr.nlm.nih.gov/gene/CUL7 dolichospondylic dysplasia GTR C1848862
Le Merrer syndrome db key
three-M slender-boned nanism GeneReviews gr_3ms
three M syndrome db key
html:p Yakut syndrome MeSH D004392
db key
OMIM 273750
db key
Orphanet 2616
db key
SNOMED CT 702342007
html:p
html:p
html:p
html:p
3-methylcrotonyl-CoA carboxylase deficiency https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency This condition is detected in an estimated 1 in 36,000 newborns worldwide. html memo related-gene gene-symbol ghr-page 3-MCC db key 2008-10 2017-12-29
html:p autosomal recessive MCCC1 https://ghr.nlm.nih.gov/gene/MCCC1 3-MCC deficiency GTR C0268600
related-gene gene-symbol ghr-page 3-methylcrotonyl-coenzyme A carboxylase deficiency db key
MCCC2 https://ghr.nlm.nih.gov/gene/MCCC2 3-methylcrotonylglycinuria GTR C1859499
3MCC db key
BMCC deficiency GTR CN028786
html:p Deficiency of methylcrotonoyl-CoA carboxylase db key
MCC deficiency MeSH D008661
Methylcrotonyl-CoA carboxylase deficiency db key
OMIM 210200
db key
OMIM 210210
db key
Orphanet 6
db key
html:p SNOMED CT 13144005
3-methylglutaconyl-CoA hydratase deficiency https://ghr.nlm.nih.gov/condition/3-methylglutaconyl-coa-hydratase-deficiency 3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 html memo related-gene gene-symbol ghr-page 3-methylglutaconic aciduria, type I db key 2014-06 2017-12-29
cases have been reported in the scientific literature. html:p autosomal recessive AUH https://ghr.nlm.nih.gov/gene/AUH 3-MG-CoA-hydratase deficiency GTR C0342727
AUH defect db key
MGA, type I ICD-10-CM E71.111
MGA1 db key
MGCA1 MeSH D000592
primary 3-methylglutaconic aciduria db key
OMIM 250950
html:p db key
Orphanet 67046
db key
SNOMED CT 237951008
html:p
html:p
3MC syndrome https://ghr.nlm.nih.gov/condition/3mc-syndrome 3MC syndrome is a rare disorder; its exact prevalence is unknown. html memo related-gene gene-symbol ghr-page Carnevale-Krajewska-Fischetto syndrome db key 2015-12 2017-12-29
html:p autosomal recessive COLEC11 https://ghr.nlm.nih.gov/gene/COLEC11 Carnevale syndrome GTR C0796032
related-gene gene-symbol ghr-page craniofacial-ulnar-renal syndrome db key
html:p MASP1 https://ghr.nlm.nih.gov/gene/MASP1 craniosynostosis with lid anomalies GTR C0796059
Malpuech facial clefting syndrome db key
Malpuech syndrome GTR C0796279
Michels syndrome db key
Mingarelli syndrome GTR CN230015
oculo-skeletal-abdominal syndrome db key
oculopalatoskeletal syndrome MeSH D019465
OSA syndrome db key
ptosis of eyelids with diastasis recti and hip dysplasia OMIM 248340
ptosis-strabismus-rectus addominis diastasis db key
OMIM 257920
html:p db key
OMIM 265050
db key
Orphanet 293843
db key
SNOMED CT 720756005
3p deletion syndrome https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome 3p deletion syndrome is likely a rare disorder; at least 30 cases have been html memo related-chromosome name ghr-page 3p partial monosomy syndrome db key 2016-06 2017-12-29
described in the scientific literature. html:p not inherited 3 https://ghr.nlm.nih.gov/chromosome/3 3p- syndrome GTR C0795806
chromosome 3, deletion 3p db key
chromosome 3, monosomy 3p MeSH D002872
chromosome 3p deletion syndrome db key
del(3p) syndrome OMIM 613792
html:p deletion 3p db key
monosomy 3p Orphanet 1620
partial monosomy 3p db key
SNOMED CT 449819002
html:p
3q29 microdeletion syndrome https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome 3q29 microdeletion syndrome appears to be very rare. Based on a study from html memo related-chromosome name ghr-page 3q subtelomere deletion syndrome db key 2017-08 2017-12-29
Iceland, the condition has an estimated incidence of 1 in 30,000 to 40,000 html:p autosomal dominant 3 https://ghr.nlm.nih.gov/chromosome/3 3q29 deletion syndrome GTR C2674949
people in that population. About 75 affected individuals have been described in 3q29 recurrent deletion db key
the medical literature. chromosome 3q29 deletion syndrome GeneReviews mdel3q29
microdeletion 3q29 syndrome db key
html:p monosomy 3q29 MeSH D002872
db key
MeSH D008607
db key
OMIM 609425
db key
Orphanet 65286
db key
html:p SNOMED CT 716456000
html:p
3q29 microduplication syndrome https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome 3q29 microduplication syndrome appears to be very rare. Fewer than 30 html memo related-chromosome name ghr-page 3q29 interstitial microduplication db key 2017-08 2017-12-29
affected individuals have been described in the medical literature. html:p autosomal dominant 3 https://ghr.nlm.nih.gov/chromosome/3 3q29 microduplication GTR C2749873
chromosome 3q29 duplication syndrome db key
microduplication 3q29 syndrome MeSH D008607
trisomy 3q29 db key
html:p MeSH D058674
db key
OMIM 611936
db key
Orphanet 251038
db key
SNOMED CT 717973004
46,XX testicular disorder of sex development https://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development Approximately 1 in 20,000 individuals with a male appearance have 46,XX html memo related-gene gene-symbol ghr-page 46,XX sex reversal db key 2008-11 2017-12-29
testicular disorder. html:p autosomal dominant SOX3 https://ghr.nlm.nih.gov/gene/SOX3 XX male syndrome GTR C2936420
related-gene gene-symbol ghr-page XX sex reversal db key
SOX9 https://ghr.nlm.nih.gov/gene/SOX9 GeneReviews xxms
related-gene gene-symbol ghr-page db key
SRY https://ghr.nlm.nih.gov/gene/SRY MeSH D058531
related-chromosome name ghr-page db key
X https://ghr.nlm.nih.gov/chromosome/X OMIM 400045
related-chromosome name ghr-page db key
Y https://ghr.nlm.nih.gov/chromosome/Y Orphanet 393
html:p db key
SNOMED CT 74398009
47,XYY syndrome https://ghr.nlm.nih.gov/condition/47xyy-syndrome This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys html memo related-chromosome name ghr-page Jacob's syndrome db key 2009-01 2017-12-29
with 47,XYY syndrome are born in the United States each day. html:p not inherited Y https://ghr.nlm.nih.gov/chromosome/Y XYY Karyotype GTR C3266843
XYY syndrome db key
YY syndrome ICD-10-CM Q98.5
db key
MeSH D014997
html:p db key
Orphanet 8
db key
SNOMED CT 50749006
html:p
48,XXYY syndrome https://ghr.nlm.nih.gov/condition/48xxyy-syndrome 48,XXYY syndrome is estimated to affect 1 in 18,000 to 40,000 males. html memo related-chromosome name ghr-page XXYY syndrome db key 2017-10 2017-12-29
html:p not inherited X https://ghr.nlm.nih.gov/chromosome/X GTR C2936741
related-chromosome name ghr-page db key
html:p Y https://ghr.nlm.nih.gov/chromosome/Y MeSH D007713
db key
Orphanet 10
db key
SNOMED CT 403760006
html:p
html:p
5-alpha reductase deficiency https://ghr.nlm.nih.gov/condition/5-alpha-reductase-deficiency 5-alpha reductase deficiency is a rare condition; the exact incidence is html memo related-gene gene-symbol ghr-page familial incomplete male pseudohermaphroditism, type 2 db key 2017-04 2017-12-29
unknown. Large families with affected members have been found in several html:p autosomal recessive SRD5A2 https://ghr.nlm.nih.gov/gene/SRD5A2 male pseudohermaphroditism due to 5-alpha-reductase deficiency GTR C0268297
countries, including the Dominican Republic, Papua New Guinea, Turkey, and PPSH db key
Egypt. pseudovaginal perineoscrotal hypospadias MeSH D058490
steroid 5-alpha-reductase deficiency db key
OMIM 264600
db key
Orphanet 753
html:p db key
SNOMED CT 57514000
html:p
html:p
5q minus syndrome https://ghr.nlm.nih.gov/condition/5q-minus-syndrome MDS affects nearly 1 in 20,000 people in the United States. It is thought html memo related-gene gene-symbol ghr-page 5q- syndrome db key 2015-11 2017-12-29
that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of html:p not inherited MIR145 https://ghr.nlm.nih.gov/gene/MIR145 chromosome 5q deletion syndrome GTR C0740302
MDS, which occur more frequently in men than women, 5q- syndrome is more than related-gene gene-symbol ghr-page myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality db key
twice as common in women. MIR146A https://ghr.nlm.nih.gov/gene/MIR146A myelodysplastic syndrome with 5q deletion ICD-10-CM D46.C
related-gene gene-symbol ghr-page myelodysplastic syndrome with 5q deletion syndrome db key
RPS14 https://ghr.nlm.nih.gov/gene/RPS14 refractory macrocytic anemia due to 5q deletion MeSH D009190
related-chromosome name ghr-page db key
5 https://ghr.nlm.nih.gov/chromosome/5 OMIM 153550
db key
SNOMED CT 277597005
html:p
5q31.3 microdeletion syndrome https://ghr.nlm.nih.gov/condition/5q313-microdeletion-syndrome 5q31.3 microdeletion syndrome is a very rare disorder. At least eight html memo related-gene gene-symbol ghr-page severe neonatal --encephalopathy syndrome due to 5q31.3 db key 2017-08 2017-12-29
individuals with the condition have been described in the medical literature. html:p autosomal dominant NRG2 https://ghr.nlm.nih.gov/gene/NRG2 microdeletion GeneReviews pura-dis
related-gene gene-symbol ghr-page db key
PURA https://ghr.nlm.nih.gov/gene/PURA MeSH D065886
related-chromosome name ghr-page db key
5 https://ghr.nlm.nih.gov/chromosome/5 Orphanet 314655
html:p
html:p
6q24-related transient neonatal diabetes mellitus https://ghr.nlm.nih.gov/condition/6q24-related-transient-neonatal-diabetes-melli Between 1 in 215,000 and 1 in 400,000 babies are born with diabetes html memo related-gene gene-symbol ghr-page 6q24-TNDM db key 2011-02 2017-12-29
tus mellitus. In about half of these babies, the diabetes is transient. Researchers html:p autosomal recessive HYMAI https://ghr.nlm.nih.gov/gene/HYMAI TNDM type 1 GTR C1832386
estimate that approximately 70 percent of transient diabetes in newborns is related-gene gene-symbol ghr-page transient neonatal diabetes mellitus 1 db key
caused by 6q24-related transient neonatal diabetes mellitus. PLAGL1 https://ghr.nlm.nih.gov/gene/PLAGL1 GeneReviews dmtn
related-gene gene-symbol ghr-page db key
ZFP57 https://ghr.nlm.nih.gov/gene/ZFP57 MeSH D003920
html:p related-chromosome name ghr-page db key
6 https://ghr.nlm.nih.gov/chromosome/6 OMIM 601410
db key
Orphanet 224
db key
SNOMED CT 609579009
html:p
7q11.23 duplication syndrome https://ghr.nlm.nih.gov/condition/7q1123-duplication-syndrome The prevalence of this disorder is estimated to be 1 in 7,500 to 20,000 html memo related-gene gene-symbol ghr-page 7q11.23 microduplication syndrome db key 2017-07 2017-12-29
people. html:p autosomal dominant ELN https://ghr.nlm.nih.gov/gene/ELN chromosome 7q11.23 duplication GTR C1857844
related-gene gene-symbol ghr-page chromosome 7q11.23 duplication syndrome db key
html:p GTF2I https://ghr.nlm.nih.gov/gene/GTF2I dup(7)(q11.23) GeneReviews dup7q11_23
related-chromosome name ghr-page Somerville-Van der Aa syndrome db key
7 https://ghr.nlm.nih.gov/chromosome/7 trisomy 7q11.23 MeSH D058674
WBS duplication syndrome db key
Williams-Beuren region duplication syndrome OMIM 609757
db key
Orphanet 96121
html:p
html:p
html:p
html:p
8p11 myeloproliferative syndrome https://ghr.nlm.nih.gov/condition/8p11-myeloproliferative-syndrome The prevalence of 8p11 myeloproliferative syndrome is unknown. It is html memo related-gene gene-symbol ghr-page 8p11 stem cell leukemia/lymphoma syndrome db key 2013-07 2017-12-29
thought to be a rare condition. html:p not inherited FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 8p11 stem cell syndrome GTR C3150773
related-gene gene-symbol ghr-page myeloid and lymphoid neoplasms with FGFR1 abnormalities db key
ZMYM2 https://ghr.nlm.nih.gov/gene/ZMYM2 stem cell leukemia/lymphoma MeSH D009196
related-chromosome name ghr-page db key
8 https://ghr.nlm.nih.gov/chromosome/8 OMIM 613523
html:p related-chromosome name ghr-page db key
13 https://ghr.nlm.nih.gov/chromosome/13 Orphanet 168953
db key
SNOMED CT 450942006
html:p
html:p
html:p
9q22.3 microdeletion https://ghr.nlm.nih.gov/condition/9q223-microdeletion 9q22.3 microdeletion appears to be a rare chromosomal change. About three html memo related-gene gene-symbol ghr-page 9q22 deletion syndrome db key 2017-10 2017-12-29
dozen affected individuals have been reported in the medical literature. html:p autosomal dominant PTCH1 https://ghr.nlm.nih.gov/gene/PTCH1 9q22.3 deletion GTR C0004779
related-chromosome name ghr-page microdeletion 9q22.3 syndrome db key
9 https://ghr.nlm.nih.gov/chromosome/9 GTR CN119542
db key
GeneReviews bcns
db key
html:p GeneReviews mdel9q22_3
db key
MeSH D025063
db key
OMIM 109400
db key
html:p Orphanet 77301
db key
SNOMED CT 711489004
html:p
Aarskog-Scott syndrome https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome Aarskog-Scott syndrome is believed to be a rare disorder; however, its html memo related-gene gene-symbol ghr-page Aarskog syndrome db key 2017-10 2017-12-29
prevalence is unknown because mildly affected people may not be diagnosed. html:p autosomal dominant FGD1 https://ghr.nlm.nih.gov/gene/FGD1 AAS GTR C0175701
memo facio-digito-genital dysplasia db key
autosomal recessive faciodigitogenital syndrome MeSH D040181
html:p memo faciogenital dysplasia db key
X-linked recessive FGDY OMIM 305400
db key
Orphanet 915
db key
SNOMED CT 14921002
html:p
html:p
Abdominal wall defect https://ghr.nlm.nih.gov/condition/abdominal-wall-defect Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to html memo synonym abdominal hernia db-key key 2017-12-29
2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by html:p pattern unknown synonym gastroschisis C0795690
gastroschisis, although researchers have observed that this malformation is synonym hernia, abdominal db-key key
becoming more common. Abdominal wall defects are more common among pregnancies synonym omphalocele Q79.2
that do not survive to term (miscarriages and stillbirths). db-key key
Q79.3
db-key key
D046449
db-key key
164750
db-key key
230750
db-key key
html:p 310980
db-key key
660
db-key key
2368
db-key key
1542009
db-key key
18735004
db-key key
196864001
db-key key
196868003
db-key key
36631002
db-key key
html:p 72951007
html:p
html:p
html:p
Abetalipoproteinemia https://ghr.nlm.nih.gov/condition/abetalipoproteinemia Abetalipoproteinemia is a rare disorder with approximately 100 cases html memo related-gene gene-symbol ghr-page Abetalipoproteinemia neuropathy db key 2008-11 2017-12-29
described worldwide. html:p autosomal recessive MTTP https://ghr.nlm.nih.gov/gene/MTTP acanthocytosis GTR C0000744
Apolipoprotein B deficiency db key
Bassen-Kornzweig Syndrome ICD-10-CM E78.6
Betalipoprotein Deficiency Disease db key
Congenital betalipoprotein deficiency syndrome MeSH D000012
Microsomal Triglyceride Transfer Protein Deficiency Disease db key
OMIM 200100
db key
Orphanet 14
db key
SNOMED CT 190787008
html:p
ACAD9 deficiency https://ghr.nlm.nih.gov/condition/acad9-deficiency The prevalence of ACAD9 deficiency is unknown. At least 25 people with this html memo related-gene gene-symbol ghr-page acyl-CoA dehydrogenase 9 deficiency db key 2017-04 2017-12-29
condition have been described in the scientific literature. html:p autosomal recessive ACAD9 https://ghr.nlm.nih.gov/gene/ACAD9 deficiency of acyl-CoA dehydrogenase family member 9 GTR C1970173
mitochondrial complex I deficiency due to ACAD9 deficiency db key
GeneReviews mt-overview
db key
MeSH D028361
html:p db key
OMIM 611126
db key
Orphanet 2609
html:p
html:p
Acatalasemia https://ghr.nlm.nih.gov/condition/acatalasemia More than 100 cases of acatalasemia have been reported in the medical html memo related-gene gene-symbol ghr-page acatalasia db key 2014-09 2017-12-29
literature. Researchers estimate that the condition occurs in about 1 in 12,500 html:p autosomal recessive CAT https://ghr.nlm.nih.gov/gene/CAT catalase deficiency GTR C0268419
people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in db key
Switzerland. The prevalence of acatalasemia in other populations is unknown. GTR C2936847
html:p db key
ICD-10-CM E80.3
db key
MeSH D020642
db key
html:p OMIM 614097
db key
Orphanet 926
db key
SNOMED CT 267454002
Aceruloplasminemia https://ghr.nlm.nih.gov/condition/aceruloplasminemia Aceruloplasminemia has been seen worldwide, but its overall prevalence is html memo related-gene gene-symbol ghr-page deficiency of ferroxidase db key 2013-10 2017-12-29
unknown. Studies in Japan have estimated that approximately 1 in 2 million html:p autosomal recessive CP https://ghr.nlm.nih.gov/gene/CP familial apoceruloplasmin deficiency GTR C0878682
adults in this population are affected. hereditary ceruloplasmin deficiency db key
hypoceruloplasminemia GeneReviews acp
html:p systemic hemosiderosis due to aceruloplasminemia db key
MeSH D019189
db key
OMIM 604290
db key
Orphanet 48818
db key
html:p SNOMED CT 124224004
html:p
html:p
html:p
Achondrogenesis https://ghr.nlm.nih.gov/condition/achondrogenesis Achondrogenesis types 1A and 1B are rare genetic disorders; their incidence html memo related-gene gene-symbol ghr-page achondrogenesis syndrome db key 2015-03 2017-12-29
is unknown. Combined, achondrogenesis type 2 and hypochondrogenesis (a similar html:p autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 GTR C0220685
skeletal disorder) occur in 1 in 40,000 to 60,000 newborns. memo related-gene gene-symbol ghr-page db key
autosomal recessive SLC26A2 https://ghr.nlm.nih.gov/gene/SLC26A2 GTR C0265273
related-gene gene-symbol ghr-page db key
TRIP11 https://ghr.nlm.nih.gov/gene/TRIP11 GTR C0265274
db key
html:p GeneReviews achon1b
db key
ICD-10-CM Q77.0
db key
html:p MeSH D010009
db key
OMIM 200600
db key
html:p OMIM 200610
db key
OMIM 600972
db key
Orphanet 932
html:p db key
Orphanet 93296
db key
Orphanet 93298
db key
Orphanet 93299
db key
SNOMED CT 14870002
db key
SNOMED CT 2391001
db key
SNOMED CT 254061001
Achondroplasia https://ghr.nlm.nih.gov/condition/achondroplasia Achondroplasia is the most common type of short-limbed dwarfism. The html memo related-gene gene-symbol ghr-page ACH db key 2012-05 2017-12-29
condition occurs in 1 in 15,000 to 40,000 newborns. html:p autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 achondroplastic dwarfism GTR C0001080
dwarf, achondroplastic db key
GeneReviews achondroplasia
db key
ICD-10-CM Q77.4
db key
MeSH D000130
html:p db key
OMIM 100800
db key
Orphanet 15
db key
SNOMED CT 86268005
html:p
Achromatopsia https://ghr.nlm.nih.gov/condition/achromatopsia Achromatopsia affects an estimated 1 in 30,000 people worldwide. Complete html memo related-gene gene-symbol ghr-page achromatism db key 2015-01 2017-12-29
achromatopsia is more common than incomplete achromatopsia.Complete html:p autosomal recessive CNGA3 https://ghr.nlm.nih.gov/gene/CNGA3 rod monochromatism GTR C0152200
achromatopsia occurs frequently among Pingelapese islanders, who live on one of related-gene gene-symbol ghr-page total color blindness db key
the Eastern Caroline Islands of Micronesia. Between 4 and 10 percent of people CNGB3 https://ghr.nlm.nih.gov/gene/CNGB3 GTR C1841721
in this population have a total absence of color vision. related-gene gene-symbol ghr-page db key
html:p GNAT2 https://ghr.nlm.nih.gov/gene/GNAT2 GTR C1849792
related-gene gene-symbol ghr-page db key
PDE6C https://ghr.nlm.nih.gov/gene/PDE6C GTR C1857618
related-gene gene-symbol ghr-page db key
PDE6H https://ghr.nlm.nih.gov/gene/PDE6H GTR C2751309
db key
html:p GTR CN158542
db key
GeneReviews achm
db key
ICD-10-CM H53.51
db key
MeSH D003117
db key
OMIM 216900
db key
OMIM 262300
db key
OMIM 610024
db key
OMIM 613093
db key
OMIM 613856
db key
Orphanet 49382
db key
SNOMED CT 56852002
Acral peeling skin syndrome https://ghr.nlm.nih.gov/condition/acral-peeling-skin-syndrome Acral peeling skin syndrome is a rare condition, with several dozen cases html memo related-gene gene-symbol ghr-page APSS db key 2014-04 2017-12-29
reported in the medical literature. However, because its signs and symptoms tend html:p autosomal recessive TGM5 https://ghr.nlm.nih.gov/gene/TGM5 peeling skin syndrome, acral type GTR C1853354
to be mild and similar to those of other skin disorders, the condition is db key
likely underdiagnosed. MeSH D003873
db key
OMIM 609796
db key
Orphanet 263534
db key
SNOMED CT 709416009
Acrocallosal syndrome https://ghr.nlm.nih.gov/condition/acrocallosal-syndrome This condition appears to be rare. Only a few dozen cases have been html memo related-gene gene-symbol ghr-page ACLS db key 2017-01 2017-12-29
reported in the medical literature. html:p autosomal dominant GLI3 https://ghr.nlm.nih.gov/gene/GLI3 hallux duplication, postaxial polydactyly, and absence of corpus callosum GTR C0796147
memo related-gene gene-symbol ghr-page Schinzel acrocallosal syndrome db key
autosomal recessive KIF7 https://ghr.nlm.nih.gov/gene/KIF7 Schinzel syndrome 1 MeSH D055673
db key
OMIM 200990
html:p db key
Orphanet 36
db key
SNOMED CT 715951007
html:p
html:p
Acromicric dysplasia https://ghr.nlm.nih.gov/condition/acromicric-dysplasia Acromicric dysplasia is a rare disorder; its prevalence is unknown. html memo related-gene gene-symbol ghr-page ACMICD db key 2014-12 2017-12-29
html:p autosomal dominant FBN1 https://ghr.nlm.nih.gov/gene/FBN1 GTR C0265287
db key
html:p MeSH D010009
db key
OMIM 102370
db key
Orphanet 969
db key
SNOMED CT 254090007
html:p
Actin-accumulation myopathy https://ghr.nlm.nih.gov/condition/actin-accumulation-myopathy Actin-accumulation myopathy is a rare disorder that has been identified in html memo related-gene gene-symbol ghr-page actin filament aggregate myopathy db key 2012-04 2017-12-29
only a small number of individuals. Its exact prevalence is unknown. html:p autosomal dominant ACTA1 https://ghr.nlm.nih.gov/gene/ACTA1 actin myopathy GTR C1834336
memo congenital myopathy with excess of thin filaments db key
not inherited nemaline myopathy 3 MeSH D017696
db key
OMIM 161800
db key
SNOMED CT 702349003
html:p
html:p
Action myoclonus–renal failure syndrome https://ghr.nlm.nih.gov/condition/action-myoclonus-renal-failure-syndrome AMRF syndrome is a rare condition that has been found worldwide. Its exact html memo related-gene gene-symbol ghr-page action myoclonus-renal failure syndrome db key 2016-06 2017-12-29
prevalence is unknown. At least 38 individuals with the condition have been html:p autosomal recessive SCARB2 https://ghr.nlm.nih.gov/gene/SCARB2 action myoclonus–renal failure syndrome GTR C0751779
described in the medical literature. AMRF db key
, progressive myoclonic 4, with or without renal failure GeneReviews amrf
EPM4 db key
html:p familial myoclonus with renal failure MeSH D020191
myoclonus-nephropathy syndrome db key
progressive myoclonus with renal failure OMIM 254900
db key
Orphanet 163696
html:p
html:p
Activated PI3K-delta syndrome https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome The prevalence of activated PI3K-delta syndrome is unknown. html memo related-gene gene-symbol ghr-page APDS db key 2014-07 2017-12-29
html:p autosomal dominant PIK3CD https://ghr.nlm.nih.gov/gene/PIK3CD immunodeficiency 14 GTR C3714976
p110δ-activating mutation causing senescent T cells, lymphadenopathy, and db key
immunodeficiency MeSH D007153
PASLI db key
OMIM 615513
db key
SNOMED CT 711480000
html:p
Acute necrotizing encephalopathy type 1 https://ghr.nlm.nih.gov/condition/acute-necrotizing-encephalopathy-type-1 Acute necrotizing encephalopathy type 1 is likely a very rare condition, html memo related-gene gene-symbol ghr-page acute necrotizing encephalitis db key 2016-07 2017-12-29
although its incidence is unknown. At least 59 cases of this condition have been html:p autosomal dominant RANBP2 https://ghr.nlm.nih.gov/gene/RANBP2 ADANE GTR CN236791
reported in the scientific literature. ANE1 db key
autosomal dominant acute necrotizing encephalopathy GeneReviews iiae3
IIAE3 db key
html:p postinfectious acute necrotizing hemorrhagic encephalopathy ICD-10-CM G04.31
susceptibility to acute necrotizing encephalopathy db key
susceptibility to infection-induced acute encephalopathy MeSH D001930
susceptibility to infection-induced acute encephalopathy 3 db key
OMIM 608033
db key
Orphanet 263524
db key
SNOMED CT 111897007
html:p
html:p
html:p
Acute promyelocytic leukemia https://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia Acute promyelocytic leukemia accounts for about 10 percent of acute myeloid html memo related-gene gene-symbol ghr-page AML M3 db key 2011-04 2017-12-29
leukemia cases. Acute promyelocytic leukemia occurs in approximately 1 in html:p not inherited NPM1 https://ghr.nlm.nih.gov/gene/NPM1 APL GTR C0023487
250,000 people in the United States. related-gene gene-symbol ghr-page leukemia, acute promyelocytic db key
NUMA1 https://ghr.nlm.nih.gov/gene/NUMA1 M3 ANLL ICD-10-CM C92.4
related-gene gene-symbol ghr-page myeloid leukemia, acute, M3 db key
PML https://ghr.nlm.nih.gov/gene/PML ICD-10-CM C92.40
related-gene gene-symbol ghr-page db key
RARA https://ghr.nlm.nih.gov/gene/RARA ICD-10-CM C92.41
related-gene gene-symbol ghr-page db key
STAT5B https://ghr.nlm.nih.gov/gene/STAT5B ICD-10-CM C92.42
html:p related-gene gene-symbol ghr-page db key
ZBTB16 https://ghr.nlm.nih.gov/gene/ZBTB16 MeSH D015473
related-chromosome name ghr-page db key
15 https://ghr.nlm.nih.gov/chromosome/15 OMIM 612376
related-chromosome name ghr-page db key
17 https://ghr.nlm.nih.gov/chromosome/17 Orphanet 520
html:p db key
SNOMED CT 110004001
db key
SNOMED CT 28950004
html:p
Adams-Oliver syndrome https://ghr.nlm.nih.gov/condition/adams-oliver-syndrome Adams-Oliver syndrome is a rare disorder; its prevalence is unknown. html memo related-gene gene-symbol ghr-page absence defect of limbs, scalp, and skull db key 2015-11 2017-12-29
html:p autosomal dominant ARHGAP31 https://ghr.nlm.nih.gov/gene/ARHGAP31 AOS GTR C0265268
memo related-gene gene-symbol ghr-page aplasia cutis congenita with terminal transverse limb defects db key
autosomal recessive DLL4 https://ghr.nlm.nih.gov/gene/DLL4 congenital scalp defects with distal limb reduction anomalies GTR C3280182
related-gene gene-symbol ghr-page db key
html:p DOCK6 https://ghr.nlm.nih.gov/gene/DOCK6 GTR C3553748
related-gene gene-symbol ghr-page db key
EOGT https://ghr.nlm.nih.gov/gene/EOGT GTR C3809092
related-gene gene-symbol ghr-page db key
NOTCH1 https://ghr.nlm.nih.gov/gene/NOTCH1 GTR C4014970
html:p related-gene gene-symbol ghr-page db key
RBPJ https://ghr.nlm.nih.gov/gene/RBPJ GTR C4225271
db key
GTR CN028867
db key
html:p GeneReviews adams-oliver
db key
MeSH D004476
db key
OMIM 100300
db key
html:p OMIM 614219
db key
OMIM 614814
db key
OMIM 615297
db key
OMIM 616028
db key
OMIM 616589
db key
Orphanet 974
db key
SNOMED CT 34748004
ADCY5-related dyskinesia https://ghr.nlm.nih.gov/condition/adcy5-related-dyskinesia At least 400 people have been diagnosed with ADCY5-related dyskinesia, but html inheritance-pattern code memo gene-symbol synonym familial dyskinesia with facial myokymia db-key db key 2017-08 2017-12-29
its prevalence is unknown. The disorder is thought to be underdiagnosed because html:p ad autosomal dominant ADCY5 synonym FDFM GTR C1847627
its features can resemble those of other conditions such as cerebral palsy or db-key db key
. GeneReviews adcy5-dysk
db-key db key
html:p MeSH D020820
db-key db key
OMIM 606703
db-key db key
html:p Orphanet 324588
db-key db key
SNOMED CT 9748009
html:p
-related dyskinesia, and most people with this condition have normal
intelligence.
Adenine phosphoribosyltransferase deficiency https://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency APRT deficiency is estimated to affect 1 in 27,000 people in Japan. The html memo related-gene gene-symbol ghr-page 2,8-dihydroxyadenine urolithiasis db key 2012-10 2017-12-29
condition is rarer in Europe, where it is thought to affect 1 in 50,000 to html:p autosomal recessive APRT https://ghr.nlm.nih.gov/gene/APRT 2,8-dihydroxyadeninuria GTR C0268120
100,000 people. The prevalence of APRT deficiency outside these populations is APRT deficiency db key
unknown. DHA crystalline nephropathy GeneReviews aprt-def
db key
MeSH D011686
html:p db key
OMIM 614723
db key
Orphanet 976
db key
SNOMED CT 124274002
db key
SNOMED CT 238009001
db key
SNOMED CT 238010006
db key
html:p SNOMED CT 65791008
html:p
Adenosine deaminase 2 deficiency https://ghr.nlm.nih.gov/condition/adenosine-deaminase-2-deficiency Only a few dozen individuals with ADA2 deficiency have been described in html memo related-gene gene-symbol ghr-page ADA2 deficiency db key 2015-01 2017-12-29
the medical literature. However, researchers suspect that it may not be a rare html:p autosomal recessive ADA2 https://ghr.nlm.nih.gov/gene/ADA2 childhood-onset polyarteritis nodosa GTR C0282492
disease. They are working to determine whether ADA2 deficiency could underlie DADA2 db key
other, more common forms of vasculitis and stroke whose causes are currently deficiency of ADA2 GTR C3887654
unknown. Sneddon syndrome db key
ICD-10-CM M30.0
html:p db key
MeSH D056647
db key
OMIM 182410
db key
OMIM 615688
db key
Orphanet 820
db key
Orphanet 404553
db key
SNOMED CT 155441006
html:p
Adenosine deaminase deficiency https://ghr.nlm.nih.gov/condition/adenosine-deaminase-deficiency Adenosine deaminase deficiency is very rare and is estimated to occur in html memo related-gene gene-symbol ghr-page ADA deficiency db key 2013-07 2017-12-29
approximately 1 in 200,000 to 1,000,000 newborns worldwide. This disorder is html:p autosomal recessive ADA https://ghr.nlm.nih.gov/gene/ADA ADA-SCID GTR C1863236
responsible for approximately 15 percent of SCID cases. adenosine deaminase deficient severe combined immunodeficiency db key
SCID due to ADA deficiency GeneReviews ada
severe combined immunodeficiency due to ADA deficiency db key
severe combined immunodeficiency, autosomal recessive, T cell-negative, B ICD-10-CM D81.3
cell-negative, NK cell-negative, due to adenosine deaminase deficiency db key
MeSH D016511
html:p db key
OMIM 102700
db key
html:p Orphanet 277
db key
SNOMED CT 44940001
Adenosine monophosphate deaminase deficiency https://ghr.nlm.nih.gov/condition/adenosine-monophosphate-deaminase-deficiency AMP deaminase deficiency is one of the most common inherited muscle html memo related-gene gene-symbol ghr-page AMP deaminase deficiency db key 2016-07 2017-12-29
disorders in white populations, affecting 1 in 50 to 100 people. The prevalence html:p autosomal recessive AMPD1 https://ghr.nlm.nih.gov/gene/AMPD1 exercise-induced myopathy GTR C0268123
is lower in African Americans, affecting an estimated 1 in 40,000 people, and MAD deficiency db key
the condition is even less common in the Japanese population. MADA deficiency ICD-10-CM E79.2
muscle AMP deaminase deficiency db key
myoadenylate deaminase deficiency MeSH D011686
db key
OMIM 615511
db key
Orphanet 45
db key
SNOMED CT 124525004
db key
SNOMED CT 9105005
Adenylosuccinate lyase deficiency https://ghr.nlm.nih.gov/condition/adenylosuccinate-lyase-deficiency Adenylosuccinate lyase deficiency is a rare disorder; fewer than 100 cases html memo related-gene gene-symbol ghr-page adenylosuccinase deficiency db key 2014-12 2017-12-29
have been reported. The condition is most common in the Netherlands and Belgium, html:p autosomal recessive ADSL https://ghr.nlm.nih.gov/gene/ADSL ADSL deficiency GTR C0268126
but it has been found worldwide. succinylpurinemic autism db key
MeSH D011686
db key
OMIM 103050
db key
Orphanet 46
html:p db key
SNOMED CT 15285008
html:p
html:p
Adermatoglyphia https://ghr.nlm.nih.gov/condition/adermatoglyphia Adermatoglyphia appears to be a rare condition. Only a few affected html memo related-gene gene-symbol ghr-page absence of fingerprints db key 2015-04 2017-12-29
families have been identified worldwide. html:p autosomal dominant SMARCAD1 https://ghr.nlm.nih.gov/gene/SMARCAD1 ADERM GTR C1851080
ADG db key
immigration delay disease MeSH D003878
db key
OMIM 129200
db key
OMIM 136000
db key
Orphanet 1658
html:p db key
Orphanet 289465
db key
SNOMED CT 83145004
Adiposis dolorosa https://ghr.nlm.nih.gov/condition/adiposis-dolorosa Adiposis dolorosa is a rare condition whose prevalence is unknown. For html memo synonym adiposalgia db-key key 2017-12-29
reasons that are unclear, it occurs up to 30 times more often in women than in html:p autosomal dominant synonym adipose tissue rheumatism C0001529
men. synonym Anders syndrome db-key key
synonym Dercum disease D000274
synonym Dercum-Vitaut syndrome db-key key
html:p synonym Dercum's disease 103200
synonym lipomatosis dolorosa db-key key
synonym morbus Dercum 36397
db-key key
71404003
html:p
ADNP syndrome https://ghr.nlm.nih.gov/condition/adnp-syndrome The prevalence of ADNP syndrome is unknown. It is estimated to account for html inheritance-pattern code memo related-gene ghr-page ADNP-related disability and db-key db key 2017-03 2017-12-29
0.17 percent of all cases of , making it one of the most html:p n not inherited https://ghr.nlm.nih.gov/gene/ADNP ADNP-related multiple congenital anomalies- disability-autism GTR C4014538
common genetic causes of this condition. spectrum disorder db-key db key
Helsmoortel-van der Aa syndrome GeneReviews adnp-dis
HVDAS db-key db key
mental retardation, autosomal dominant 28 MeSH D065886
html:p MRD28 db-key db key
OMIM 615873
db-key db key
Orphanet 404448
html:p
html:p
Adolescent idiopathic scoliosis https://ghr.nlm.nih.gov/condition/adolescent-idiopathic-scoliosis Adolescent idiopathic scoliosis is the most common spinal abnormality in html memo synonym AIS db-key key 2017-12-29
children. It affects an estimated 2 to 3 percent of children in the U.S. html:p pattern unknown synonym late onset idiopathic scoliosis C1837461
db-key key
C1846366
db-key key
html:p C2700406
db-key key
M41.12
db-key key
M41.122
db-key key
html:p M41.123
db-key key
M41.124
db-key key
M41.125
db-key key
M41.126
html:p db-key key
M41.127
db-key key
M41.129
db-key key
D012600
db-key key
181800
db-key key
607354
db-key key
608765
db-key key
612238
db-key key
612239
db-key key
3153
db-key key
203646004
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia https://ghr.nlm.nih.gov/condition/adult-onset-leukoencephalopathy-with-axonal-sp ALSP is thought to be a rare disorder, although the prevalence is unknown. html memo related-gene gene-symbol ghr-page ALSP db key 2015-08 2017-12-29
heroids-and-pigmented-glia Because it can be mistaken for other disorders with similar symptoms, ALSP may html:p autosomal dominant CSF1R https://ghr.nlm.nih.gov/gene/CSF1R hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia GTR C1857300
be underdiagnosed. db key
GeneReviews hdls
db key
MeSH D056784
db key
OMIM 221820
db key
Orphanet 313808
db key
SNOMED CT 702427005
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html:p
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Adult polyglucosan body disease https://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease Adult polyglucosan body disease is a rare condition; although its exact html memo related-gene gene-symbol ghr-page APBD db key 2016-07 2017-12-29
prevalence is unknown, at least 70 affected individuals have been described in html:p autosomal recessive GBE1 https://ghr.nlm.nih.gov/gene/GBE1 polyglucosan body disease, adult form GTR C1849722
the medical literature. db key
GeneReviews apbd
db key
MeSH D002493
db key
MeSH D006008
db key
html:p OMIM 263570
db key
Orphanet 206583
db key
SNOMED CT 721099001
African iron overload https://ghr.nlm.nih.gov/condition/african-iron-overload African iron overload is common in rural areas of central and southern html memo related-gene gene-symbol ghr-page African hemochromatosis db key 2016-07 2017-12-29
Africa; up to 10 percent of the population in these regions may be affected. Men html:p pattern unknown SLC40A1 https://ghr.nlm.nih.gov/gene/SLC40A1 African nutritional hemochromatosis GTR C0268063
seem to be affected more often than women, possibly due to some combination of African siderosis db key
differences in dietary iron consumption and women's shedding of excess iron MeSH D012806
through blood loss in menstruation and childbirth.The prevalence of increased db key
iron stores in people of African descent in other parts of the world is unknown; OMIM 601195
however, these individuals may be at higher risk of developing mildly increased db key
iron stores than are people of European background. SNOMED CT 66576001
html:p
html:p
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html:p
Age-related hearing loss https://ghr.nlm.nih.gov/condition/age-related-hearing-loss Age-related hearing loss is one of the most common health conditions html memo related-gene gene-symbol ghr-page age-related hearing impairment db key 2017-10 2017-12-29
affecting older adults. Tens of millions of people worldwide are affected. In html:p pattern unknown APOE https://ghr.nlm.nih.gov/gene/APOE deafness due to old age GTR C2676230
the United States, an estimated one-third of people over age 65, and half of related-gene gene-symbol ghr-page hearing loss, age-related db key
those over 85, have some hearing loss. CDH23 https://ghr.nlm.nih.gov/gene/CDH23 old-aged sensorineural hearing impairment GTR C2751814
related-gene gene-symbol ghr-page presbyacusia db key
html:p EDN1 https://ghr.nlm.nih.gov/gene/EDN1 presbycusis ICD-10-CM H91.1
related-gene gene-symbol ghr-page db key
ESRRG https://ghr.nlm.nih.gov/gene/ESRRG ICD-10-CM H91.10
related-gene gene-symbol ghr-page db key
GIPC3 https://ghr.nlm.nih.gov/gene/GIPC3 ICD-10-CM H91.11
related-gene gene-symbol ghr-page db key
html:p GRHL2 https://ghr.nlm.nih.gov/gene/GRHL2 ICD-10-CM H91.12
related-gene gene-symbol ghr-page db key
GRM7 https://ghr.nlm.nih.gov/gene/GRM7 ICD-10-CM H91.13
related-gene gene-symbol ghr-page db key
GRM8 https://ghr.nlm.nih.gov/gene/GRM8 MeSH D011304
html:p related-gene gene-symbol ghr-page db key
KCNQ4 https://ghr.nlm.nih.gov/gene/KCNQ4 OMIM 612448
related-gene gene-symbol ghr-page db key
MTHFR https://ghr.nlm.nih.gov/gene/MTHFR OMIM 612976
related-gene gene-symbol ghr-page db key
MYO6 https://ghr.nlm.nih.gov/gene/MYO6 SNOMED CT 49526009
related-gene gene-symbol ghr-page
MYO7A https://ghr.nlm.nih.gov/gene/MYO7A
related-gene gene-symbol ghr-page
NAT2 https://ghr.nlm.nih.gov/gene/NAT2
related-gene gene-symbol ghr-page
SLC26A4 https://ghr.nlm.nih.gov/gene/SLC26A4
related-gene gene-symbol ghr-page
UCP2 https://ghr.nlm.nih.gov/gene/UCP2
related-mitochondrial-dna name ghr-page
mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna
Age-related macular degeneration https://ghr.nlm.nih.gov/condition/age-related-macular-degeneration Age-related macular degeneration has an estimated prevalence of 1 in 2,000 html memo related-gene gene-symbol ghr-page age-related maculopathy db key 2016-08 2017-12-29
people in the United States and other developed countries. The condition html:p pattern unknown ABCA4 https://ghr.nlm.nih.gov/gene/ABCA4 AMD GTR C0242383
currently affects several million Americans, and the prevalence is expected to related-gene gene-symbol ghr-page ARMD db key
increase over the coming decades as the proportion of older people in the APOE https://ghr.nlm.nih.gov/gene/APOE macular degeneration, age-related GTR C1837187
population increases.For reasons that are unclear, age-related macular related-gene gene-symbol ghr-page db key
degeneration affects individuals of European descent more frequently than html:p ARMS2 https://ghr.nlm.nih.gov/gene/ARMS2 GTR C1853147
African Americans in the United States. related-gene gene-symbol ghr-page db key
ASPM https://ghr.nlm.nih.gov/gene/ASPM GTR C1857813
related-gene gene-symbol ghr-page db key
BEST1 https://ghr.nlm.nih.gov/gene/BEST1 GTR C1857814
related-gene gene-symbol ghr-page db key
C2 https://ghr.nlm.nih.gov/gene/C2 GTR C1857815
related-gene gene-symbol ghr-page db key
C3 https://ghr.nlm.nih.gov/gene/C3 GTR C1864205
html:p related-gene gene-symbol ghr-page db key
C9 https://ghr.nlm.nih.gov/gene/C9 GTR C1969108
related-gene gene-symbol ghr-page db key
CETP https://ghr.nlm.nih.gov/gene/CETP GTR C1969651
related-gene gene-symbol ghr-page db key
CFB https://ghr.nlm.nih.gov/gene/CFB GTR C2677774
related-gene gene-symbol ghr-page db key
html:p CFH https://ghr.nlm.nih.gov/gene/CFH GTR C3151060
related-gene gene-symbol ghr-page db key
CFHR1 https://ghr.nlm.nih.gov/gene/CFHR1 GTR C3151063
related-gene gene-symbol ghr-page db key
CFHR2 https://ghr.nlm.nih.gov/gene/CFHR2 GTR C3151070
related-gene gene-symbol ghr-page db key
CFHR3 https://ghr.nlm.nih.gov/gene/CFHR3 GTR C3151079
related-gene gene-symbol ghr-page db key
CFHR4 https://ghr.nlm.nih.gov/gene/CFHR4 GTR C3495438
related-gene gene-symbol ghr-page db key
CFHR5 https://ghr.nlm.nih.gov/gene/CFHR5 GTR C3809523
related-gene gene-symbol ghr-page db key
CFI https://ghr.nlm.nih.gov/gene/CFI GTR C3809653
related-gene gene-symbol ghr-page db key
COL8A1 https://ghr.nlm.nih.gov/gene/COL8A1 GTR C3810042
related-gene gene-symbol ghr-page db key
COL10A1 https://ghr.nlm.nih.gov/gene/COL10A1 ICD-10-CM H35.30
related-gene gene-symbol ghr-page db key
CST3 https://ghr.nlm.nih.gov/gene/CST3 ICD-10-CM H35.31
related-gene gene-symbol ghr-page db key
CX3CR1 https://ghr.nlm.nih.gov/gene/CX3CR1 ICD-10-CM H35.32
related-gene gene-symbol ghr-page db key
ELOVL4 https://ghr.nlm.nih.gov/gene/ELOVL4 MeSH D008268
related-gene gene-symbol ghr-page db key
ERCC6 https://ghr.nlm.nih.gov/gene/ERCC6 OMIM 153800
related-gene gene-symbol ghr-page db key
F13B https://ghr.nlm.nih.gov/gene/F13B OMIM 603075
related-gene gene-symbol ghr-page db key
FBLN5 https://ghr.nlm.nih.gov/gene/FBLN5 OMIM 608895
related-gene gene-symbol ghr-page db key
FILIP1L https://ghr.nlm.nih.gov/gene/FILIP1L OMIM 610149
related-gene gene-symbol ghr-page db key
FRK https://ghr.nlm.nih.gov/gene/FRK OMIM 610698
related-gene gene-symbol ghr-page db key
HMCN1 https://ghr.nlm.nih.gov/gene/HMCN1 OMIM 611378
related-gene gene-symbol ghr-page db key
HTRA1 https://ghr.nlm.nih.gov/gene/HTRA1 OMIM 611488
related-gene gene-symbol ghr-page db key
LIPC https://ghr.nlm.nih.gov/gene/LIPC OMIM 611953
related-gene gene-symbol ghr-page db key
MAP2 https://ghr.nlm.nih.gov/gene/MAP2 OMIM 613757
related-gene gene-symbol ghr-page db key
TIMP3 https://ghr.nlm.nih.gov/gene/TIMP3 OMIM 613761
related-gene gene-symbol ghr-page db key
TNFRSF10A https://ghr.nlm.nih.gov/gene/TNFRSF10A OMIM 613778
related-gene gene-symbol ghr-page db key
VEGFA https://ghr.nlm.nih.gov/gene/VEGFA OMIM 613784
db key
OMIM 615439
db key
OMIM 615489
db key
OMIM 615591
db key
Orphanet 279
db key
SNOMED CT 267718000
Aicardi-Goutières syndrome https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome Aicardi-Goutières syndrome is a rare disorder. Its exact prevalence is html memo related-gene gene-symbol ghr-page AGS db key 2017-11 2017-12-29
unknown. html:p autosomal dominant ADAR https://ghr.nlm.nih.gov/gene/ADAR Aicardi-Goutieres syndrome GTR C0393591
memo related-gene gene-symbol ghr-page Aicardi Goutieres syndrome db key
html:p autosomal recessive IFIH1 https://ghr.nlm.nih.gov/gene/IFIH1 Cree encephalitis GTR C0796126
related-gene gene-symbol ghr-page encephalopathy with basal ganglia calcification db key
RNASEH2A https://ghr.nlm.nih.gov/gene/RNASEH2A familial infantile encephalopathy with intracranial calcification and chronic GTR C1835912
related-gene gene-symbol ghr-page cerebrospinal fluid lymphocytosis db key
RNASEH2B https://ghr.nlm.nih.gov/gene/RNASEH2B pseudotoxoplasmosis syndrome GTR C1835916
related-gene gene-symbol ghr-page db key
RNASEH2C https://ghr.nlm.nih.gov/gene/RNASEH2C GTR C2749659
related-gene gene-symbol ghr-page db key
SAMHD1 https://ghr.nlm.nih.gov/gene/SAMHD1 GTR C3150315
related-gene gene-symbol ghr-page db key
html:p TREX1 https://ghr.nlm.nih.gov/gene/TREX1 GTR C3489724
db key
GTR C3539013
db key
GTR C3888244
db key
GeneReviews ags
db key
MeSH D020279
db key
OMIM 225750
db key
OMIM 610181
html:p db key
OMIM 610329
db key
OMIM 610333
db key
OMIM 612952
db key
OMIM 615010
db key
OMIM 615846
html:p db key
Orphanet 51
db key
SNOMED CT 230312006
html:p
Aicardi syndrome https://ghr.nlm.nih.gov/condition/aicardi-syndrome Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,000 html memo synonym agenesis of corpus callosum with chorioretinal abnormality db-key key 2017-12-29
to 167,000 newborns in the United States. Researchers estimate that there are html:p X-linked dominant synonym agenesis of corpus callosum with infantile spasms and ocular abnormalities C0175713
approximately 4,000 affected individuals worldwide. synonym Aicardi's syndrome db-key key
synonym callosal agenesis and ocular abnormalities aic
synonym chorioretinal anomalies with ACC db-key key
D058540
db-key key
304050
db-key key
html:p 50
db-key key
80651009
html:p
html:p
html:p
Alagille syndrome https://ghr.nlm.nih.gov/condition/alagille-syndrome The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This html memo related-gene gene-symbol ghr-page Alagille-Watson Syndrome db key 2014-12 2017-12-29
figure is based on diagnoses of liver disease in infants, and may be an html:p autosomal dominant JAG1 https://ghr.nlm.nih.gov/gene/JAG1 Alagille's syndrome GTR C1857761
underestimation because some people with Alagille syndrome do not develop liver related-gene gene-symbol ghr-page arteriohepatic dysplasia (AHD) db key
disease during infancy. html:p NOTCH2 https://ghr.nlm.nih.gov/gene/NOTCH2 cardiovertebral syndrome GTR C1956125
related-chromosome name ghr-page cholestasis with peripheral pulmonary stenosis db key
20 https://ghr.nlm.nih.gov/chromosome/20 hepatic ductular hypoplasia GeneReviews alagille
hepatofacioneurocardiovertebral syndrome db key
paucity of interlobular bile ducts MeSH D016738
Watson-Miller syndrome db key
OMIM 118450
db key
OMIM 610205
html:p db key
Orphanet 52
db key
SNOMED CT 31742004
html:p
html:p
html:p
Aldosterone-producing adenoma https://ghr.nlm.nih.gov/condition/aldosterone-producing-adenoma Aldosterone-producing adenomas cause up to 60 percent of cases of primary html memo related-gene gene-symbol ghr-page aldosterone-secreting adenoma db key 2017-08 2017-12-29
hyperaldosteronism. It is estimated that primary hyperaldosteronism accounts for html:p not inherited ATP1A1 https://ghr.nlm.nih.gov/gene/ATP1A1 aldosteronoma MeSH D000236
5 to 15 percent of cases of hypertension, which affects approximately 3 in 10 related-gene gene-symbol ghr-page Conn adenoma db key
adults worldwide. However, the prevalence of aldosterone-producing adenomas is ATP2B3 https://ghr.nlm.nih.gov/gene/ATP2B3 primary aldosteronism due to Conn adenoma Orphanet 85142
unknown. related-gene gene-symbol ghr-page
CACNA1D https://ghr.nlm.nih.gov/gene/CACNA1D
related-gene gene-symbol ghr-page
CTNNB1 https://ghr.nlm.nih.gov/gene/CTNNB1
related-gene gene-symbol ghr-page
KCNJ5 https://ghr.nlm.nih.gov/gene/KCNJ5
Alexander disease https://ghr.nlm.nih.gov/condition/alexander-disease The prevalence of Alexander disease is unknown. About 500 cases have been html memo related-gene gene-symbol ghr-page Alexander's disease db key 2015-10 2017-12-29
reported since the disorder was first described in 1949. html:p autosomal dominant GFAP https://ghr.nlm.nih.gov/gene/GFAP ALX GTR C0270726
AxD db key
demyelinogenic leukodystrophy GeneReviews alexander
dysmyelinogenic leukodystrophy db key
fibrinoid degeneration of astrocytes MeSH D038261
leukodystrophy with Rosenthal fibers db key
OMIM 203450
html:p db key
Orphanet 58
db key
SNOMED CT 81854007
html:p
ALG1-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation ALG1-CDG appears to be a rare disorder; fewer than 30 affected individuals html inheritance-pattern code memo related-gene ghr-page ALG1-CDG db-key db key 2017-12 2017-12-29
have been described in the scientific literature. html:p ar autosomal recessive https://ghr.nlm.nih.gov/gene/ALG1 carbohydrate deficient glycoprotein syndrome type Ik GTR C2931005
CDG1K db-key db key
CDGIk GeneReviews cdg
html:p congenital disorder of glycosylation type 1K db-key db key
mannosyltransferase 1 deficiency MeSH D018981
db-key db key
OMIM 608540
html:p db-key db key
Orphanet 79327
db-key db key
SNOMED CT 720941007
html:p
html:p
html:p
ALG12-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation ALG12-CDG is a rare condition; its prevalence is unknown. Only a handful of html inheritance-pattern code memo gene-symbol synonym ALG12-CDG db-key db key 2015-01 2017-12-29
affected individuals have been described in the medical literature. html:p ar autosomal recessive ALG12 synonym CDG Ig GTR C2931001
synonym CDG1G db-key db key
-CDG typically develop signs and symptoms of the condition during infancy. They synonym congenital disorder of glycosylation type 1G GeneReviews cdg
may have problems feeding and difficulty growing and gaining weight at the synonym congenital disorder of glycosylation type Ig db-key db key
expected rate (failure to thrive). In addition, affected individuals often have MeSH D018981
disability, delayed development, and (), db-key db key
and some develop . OMIM 607143
html:p db-key db key
Orphanet 137
db-key db key
Orphanet 79324
db-key db key
html:p SNOMED CT 711155008
html:p
ALG6-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation The prevalence of ALG6-CDG is unknown, but it is thought to be the second html inheritance-pattern code related-gene ghr-page synonym ALG6-CDG db-key db key 2014-05 2017-12-29
most common type of congenital disorder of glycosylation. More than 30 cases of html:p ar https://ghr.nlm.nih.gov/gene/ALG6 synonym carbohydrate-deficient glycoprotein syndrome type Ic GTR C2930997
ALG6-CDG have been described in the scientific literature. synonym carbohydrate-deficient glycoprotein syndrome type V db-key db key
-CDG vary widely among people with the condition. synonym CDG syndrome type Ic GeneReviews cdg
synonym CDG1C db-key db key
html:p synonym CDGIc MeSH D018981
synonym congenital disorder of glycosylation type Ic db-key db key
synonym glucosyltransferase 1 deficiency OMIM 603147
db-key db key
html:p Orphanet 79320
db-key db key
SNOMED CT 709412006
-CDG have hypergonadotropic hypogonadism, which affects the production of
html:i -CDG do not go through puberty.
ALG6
Alkaptonuria https://ghr.nlm.nih.gov/condition/alkaptonuria This condition is rare, affecting 1 in 250,000 to 1 million people html memo related-gene gene-symbol ghr-page AKU db key 2013-11 2017-12-29
worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it html:p autosomal recessive HGD https://ghr.nlm.nih.gov/gene/HGD alcaptonuria GTR C0002066
has an incidence of about 1 in 19,000 people) and in the Dominican Republic. homogentisic acid oxidase deficiency db key
homogentisic acidura GeneReviews alkap
db key
ICD-10-CM E70.29
db key
MeSH D000474
db key
OMIM 203500
db key
Orphanet 56
db key
SNOMED CT 360381004
Allan-Herndon-Dudley syndrome https://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome Allan-Herndon-Dudley syndrome appears to be a rare disorder. About 25 html memo related-gene gene-symbol ghr-page Allan-Herndon syndrome db key 2013-04 2017-12-29
families with individuals affected by this condition have been reported html:p X-linked recessive SLC16A2 https://ghr.nlm.nih.gov/gene/SLC16A2 MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency GTR C0795889
worldwide. mental retardation, X-linked, with db key
monocarboxylate transporter 8 (MCT8) deficiency GeneReviews thctd
db key
MeSH D009123
html:p db key
MeSH D038901
db key
OMIM 300523
db key
Orphanet 59
db key
SNOMED CT 702327009
Allergic asthma https://ghr.nlm.nih.gov/condition/allergic-asthma Approximately 235 million people worldwide have asthma. In the United html memo synonym extrinsic asthma db-key key 2017-12-29
States, the condition affects an estimated 8 percent of the population. In html:p pattern unknown C0155877
nearly 90 percent of children and 50 percent of adults with asthma, the db-key key
condition is classified as allergic asthma. C1869116
db-key key
J45
db-key key
D001249
db-key key
600807
html:p db-key key
389145006
html:p
html:p
Alpers-Huttenlocher syndrome https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in html code memo related-gene gene-symbol synonym db-key db key 2011-06 2017-12-29
100,000 individuals. html:p ar autosomal recessive POLG synonym GTR C0205710
synonym db-key db key
synonym GeneReviews alpers
synonym db-key db key
synonym ICD-10-CM G31.81
db-key db key
MeSH D002549
db-key db key
html:p OMIM 203700
db-key db key
Orphanet 726
db-key db key
SNOMED CT 20415001
html:p
Alpha-1 antitrypsin deficiency https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies html memo related-gene gene-symbol ghr-page AAT db key 2013-01 2017-12-29
by population. This disorder affects about 1 in 1,500 to 3,500 individuals with html:p autosomal recessive SERPINA1 https://ghr.nlm.nih.gov/gene/SERPINA1 AATD GTR C0221757
European ancestry. It is uncommon in people of Asian descent. Many individuals alpha-1 protease inhibitor deficiency db key
with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people alpha-1 related emphysema GeneReviews alpha1-a
with a lung condition called chronic obstructive pulmonary disease (COPD). COPD html:p genetic emphysema db key
can be caused by alpha-1 antitrypsin deficiency; however, the alpha-1 hereditary pulmonary emphysema ICD-10-CM E88.01
antitrypsin deficiency is often never diagnosed. Some people with alpha-1 inherited emphysema db key
antitrypsin deficiency are misdiagnosed with asthma. MeSH D019896
db key
OMIM 613490
db key
Orphanet 60
db key
SNOMED CT 30188007
html:p
html:p
Alpha-mannosidosis https://ghr.nlm.nih.gov/condition/alpha-mannosidosis Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 html memo related-gene gene-symbol ghr-page alpha-D-mannosidosis db key 2014-05 2017-12-29
people worldwide. html:p autosomal recessive MAN2B1 https://ghr.nlm.nih.gov/gene/MAN2B1 alpha-mannosidase B deficiency GTR C0024748
alpha-mannosidase deficiency db key
deficiency of alpha-mannosidase GeneReviews a-mannosidosis
lysosomal alpha B mannosidosis db key
lysosomal alpha-D-mannosidase deficiency MeSH D008363
mannosidosis db key
OMIM 248500
db key
Orphanet 61
db key
html:p SNOMED CT 124466001
html:p
Alpha-methylacyl-CoA racemase deficiency https://ghr.nlm.nih.gov/condition/alpha-methylacyl-coa-racemase-deficiency AMACR deficiency is a rare disorder. Its prevalence is unknown. At least 10 html memo related-gene gene-symbol ghr-page AMACR deficiency db key 2013-12 2017-12-29
cases have been described in the medical literature. html:p autosomal recessive AMACR https://ghr.nlm.nih.gov/gene/AMACR GTR C1858325
db key
MeSH D018901
db key
OMIM 614307
db key
SNOMED CT 700463002
Alpha thalassemia https://ghr.nlm.nih.gov/condition/alpha-thalassemia Alpha thalassemia is a fairly common blood disorder worldwide. Thousands of html memo related-gene gene-symbol ghr-page alpha-thalassemia db key 2017-06 2017-12-29
infants with Hb Bart syndrome and HbH disease are born each year, particularly html:p pattern unknown HBA1 https://ghr.nlm.nih.gov/gene/HBA1 α-thalassemia GTR C0002312
in Southeast Asia. Alpha thalassemia also occurs frequently in people from related-gene gene-symbol ghr-page db key
Mediterranean countries, Africa, the Middle East, India, and Central Asia. HBA2 https://ghr.nlm.nih.gov/gene/HBA2 GeneReviews a-thal
html:p db key
ICD-10-CM D56.0
db key
ICD-10-CM D56.3
html:p db key
MeSH D017085
db key
html:p OMIM 141800
db key
OMIM 141850
db key
OMIM 604131
db key
Orphanet 846
db key
html:p SNOMED CT 68913001
Alpha thalassemia X-linked disability syndrome https://ghr.nlm.nih.gov/condition/alpha-thalassemia-x-linked--disabi Alpha thalassemia X-linked disability syndrome appears to be a html memo related-gene gene-symbol ghr-page alpha-thalassemia X-linked mental retardation syndrome db key 2009-08 2017-12-29
lity-syndrome rare condition, although its exact prevalence is unknown. More than 200 html:p X-linked recessive ATRX https://ghr.nlm.nih.gov/gene/ATRX alpha thalassemia X-linked mental retardation syndrome GTR C1845055
affected individuals have been reported. alpha-thalassemia/mental retardation syndrome, nondeletion type db key
alpha thalassemia/mental retardation, X-linked GeneReviews xlmr
html:p ATR-X syndrome db key
ATRX syndrome ICD-10-CM D56.0
X-linked alpha-thalassemia/mental retardation syndrome db key
XLMR-hypotonic face syndrome MeSH D038901
db key
OMIM 301040
html:p db key
Orphanet 847
db key
SNOMED CT 277918006
db key
SNOMED CT 715342005
html:p
html:p
Alport syndrome https://ghr.nlm.nih.gov/condition/alport-syndrome Alport syndrome occurs in approximately 1 in 50,000 newborns. html memo related-gene gene-symbol ghr-page congenital hereditary hematuria db key 2013-12 2017-12-29
html:p autosomal dominant COL4A3 https://ghr.nlm.nih.gov/gene/COL4A3 hematuria-nephropathy-deafness syndrome GTR C1567741
memo related-gene gene-symbol ghr-page hematuric hereditary nephritis db key
html:p autosomal recessive COL4A4 https://ghr.nlm.nih.gov/gene/COL4A4 hemorrhagic familial nephritis GTR C1567742
memo related-gene gene-symbol ghr-page hemorrhagic hereditary nephritis db key
X-linked recessive COL4A5 https://ghr.nlm.nih.gov/gene/COL4A5 hereditary familial congenital hemorrhagic nephritis GTR C1567743
hereditary hematuria syndrome db key
hereditary interstitial pyelonephritis GTR C1567744
hereditary nephritis db key
html:p GeneReviews alport
db key
ICD-10-CM Q87.81
db key
MeSH D009394
db key
html:p OMIM 104200
db key
OMIM 203780
db key
OMIM 301050
db key
Orphanet 63
db key
SNOMED CT 717766000
db key
SNOMED CT 717767009
db key
SNOMED CT 717768004
Alström syndrome https://ghr.nlm.nih.gov/condition/alstrom-syndrome More than 900 people with Alström syndrome have been reported worldwide. html memo related-gene gene-symbol ghr-page ALMS db key 2014-09 2017-12-29
html:p autosomal recessive ALMS1 https://ghr.nlm.nih.gov/gene/ALMS1 Alstrom-Hallgren syndrome GTR C0268425
Alstrom syndrome db key
GeneReviews alstrom
html:p db key
MeSH D056769
db key
OMIM 203800
db key
Orphanet 64
db key
SNOMED CT 63702009
Alternating hemiplegia of childhood https://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood Alternating hemiplegia of childhood is a rare condition that affects html memo related-gene gene-symbol ghr-page alternating hemiplegia syndrome db key 2016-09 2017-12-29
approximately 1 in 1 million people. html:p autosomal dominant ATP1A2 https://ghr.nlm.nih.gov/gene/ATP1A2 GTR C3549447
related-gene gene-symbol ghr-page db key
ATP1A3 https://ghr.nlm.nih.gov/gene/ATP1A3 GTR C3553788
db key
MeSH D006429
db key
html:p OMIM 104290
db key
OMIM 614820
db key
Orphanet 2131
db key
SNOMED CT 230466004
html:p
html:p
Alveolar capillary dysplasia with misalignment of pulmonary veins https://ghr.nlm.nih.gov/condition/alveolar-capillary-dysplasia-with-misalignment ACD/MPV is a rare disorder; its incidence is unknown. Approximately 200 html memo related-gene gene-symbol ghr-page ACD db key 2015-08 2017-12-29
-of-pulmonary-veins infants with this disorder have been identified worldwide. html:p autosomal dominant FOXF1 https://ghr.nlm.nih.gov/gene/FOXF1 ACD/MPV GTR C0031190
memo related-chromosome name ghr-page ACDMPV db key
autosomal recessive 16 https://ghr.nlm.nih.gov/chromosome/16 alveolar capillary dysplasia MeSH D010547
congenital alveolar capillary dysplasia db key
familial persistent pulmonary hypertension of the newborn OMIM 265380
misalignment of the pulmonary vessels db key
html:p Orphanet 210122
db key
SNOMED CT 206597007
html:p
html:p
html:p
Alzheimer disease https://ghr.nlm.nih.gov/condition/alzheimer-disease Alzheimer disease currently affects an estimated 2.4 million to 4.5 million html memo related-gene gene-symbol ghr-page AD db key 2013-05 2017-12-29
Americans. Because the risk of developing Alzheimer disease increases with age html:p autosomal dominant APOE https://ghr.nlm.nih.gov/gene/APOE Alzheimer dementia (AD) GTR C0002395
and more people are living longer, the number of people with this disease is memo related-gene gene-symbol ghr-page Alzheimer sclerosis db key
expected to increase significantly in coming decades. pattern unknown APP https://ghr.nlm.nih.gov/gene/APP Alzheimer syndrome GTR C1843013
related-gene gene-symbol ghr-page Alzheimer-type dementia (ATD) db key
html:p PSEN1 https://ghr.nlm.nih.gov/gene/PSEN1 Alzheimer's Disease GTR C1847200
related-gene gene-symbol ghr-page DAT db key
PSEN2 https://ghr.nlm.nih.gov/gene/PSEN2 familial Alzheimer disease (FAD) GTR C1863051
Presenile and senile dementia db key
Primary Senile Degenerative Dementia GeneReviews alzheimer
SDAT db key
GeneReviews alzheimer-early
db key
html:p ICD-10-CM G30
db key
ICD-10-CM G30.0
db key
ICD-10-CM G30.1
db key
ICD-10-CM G30.8
db key
html:p ICD-10-CM G30.9
db key
MeSH D000544
db key
OMIM 104300
db key
OMIM 104310
db key
OMIM 606889
db key
OMIM 607822
db key
Orphanet 1020
db key
SNOMED CT 10532003
db key
SNOMED CT 26929004
db key
SNOMED CT 416780008
db key
SNOMED CT 416975007
db key
SNOMED CT 65096006
Amelogenesis imperfecta https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta The exact incidence of amelogenesis imperfecta is uncertain. Estimates html memo related-gene gene-symbol ghr-page AI db key 2015-05 2017-12-29
vary widely, from 1 in 700 people in northern Sweden to 1 in 14,000 people in html:p autosomal dominant AMELX https://ghr.nlm.nih.gov/gene/AMELX congenital enamel hypoplasia GTR C0399368
the United States. memo related-gene gene-symbol ghr-page db key
autosomal recessive ENAM https://ghr.nlm.nih.gov/gene/ENAM GTR C0399376
memo related-gene gene-symbol ghr-page db key
X-linked recessive FAM83H https://ghr.nlm.nih.gov/gene/FAM83H GTR C1845052
html:p related-gene gene-symbol ghr-page db key
ITGB6 https://ghr.nlm.nih.gov/gene/ITGB6 GTR C2673923
related-gene gene-symbol ghr-page db key
KLK4 https://ghr.nlm.nih.gov/gene/KLK4 MeSH D000567
related-gene gene-symbol ghr-page db key
LAMB3 https://ghr.nlm.nih.gov/gene/LAMB3 OMIM 104500
related-gene gene-symbol ghr-page db key
MMP20 https://ghr.nlm.nih.gov/gene/MMP20 OMIM 130900
related-gene gene-symbol ghr-page db key
ODAPH https://ghr.nlm.nih.gov/gene/ODAPH OMIM 204650
related-gene gene-symbol ghr-page db key
SLC24A4 https://ghr.nlm.nih.gov/gene/SLC24A4 OMIM 301200
related-gene gene-symbol ghr-page db key
WDR72 https://ghr.nlm.nih.gov/gene/WDR72 OMIM 612529
db key
Orphanet 88661
db key
SNOMED CT 234961008
db key
SNOMED CT 78494001
Aminoacylase 1 deficiency https://ghr.nlm.nih.gov/condition/aminoacylase-1-deficiency The prevalence of aminoacylase 1 deficiency is unknown. html code memo related-gene gene-symbol synonym db-key db key 2014-05 2017-12-29
html:p ar autosomal recessive ACY1 synonym GTR C1835922
db-key db key
MeSH D008661
db-key db key
OMIM 609924
db-key db key
Orphanet 137754
db-key db key
SNOMED CT 709282004
Amish lethal microcephaly https://ghr.nlm.nih.gov/condition/amish-lethal-microcephaly Amish lethal microcephaly occurs in approximately 1 in 500 newborns in the html memo related-gene gene-symbol ghr-page Amish microcephaly db key 2013-07 2017-12-29
Old Order Amish population of Pennsylvania. It has not been found outside this html:p autosomal recessive SLC25A19 https://ghr.nlm.nih.gov/gene/SLC25A19 MCPHA GTR C1846648
population. microcephaly, Amish type db key
html:p GeneReviews amish-mcph
db key
MeSH D008831
html:p db key
OMIM 607196
db key
Orphanet 99742
db key
SNOMED CT 702437000
Amyotrophic lateral sclerosis https://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis About 5,000 people in the United States are diagnosed with ALS each year. html memo related-gene gene-symbol ghr-page ALS db key 2016-03 2017-12-29
Worldwide, this disorder occurs in 2 to 5 per 100,000 individuals. Only a small html:p autosomal dominant ALS2 https://ghr.nlm.nih.gov/gene/ALS2 amyotrophic lateral sclerosis with dementia GTR C0002736
percentage of cases have a known genetic cause.Among the Chamorro people of memo related-gene gene-symbol ghr-page Charcot disease db key
Guam and people from the Kii Peninsula of Japan, ALS-PDC can be 100 times more autosomal recessive ANG https://ghr.nlm.nih.gov/gene/ANG dementia with amyotrophic lateral sclerosis GTR C0543859
frequent than ALS is in other populations. ALS-PDC has not been reported outside memo related-gene gene-symbol ghr-page Lou Gehrig disease db key
of these populations. not inherited ATXN2 https://ghr.nlm.nih.gov/gene/ATXN2 motor neuron disease, amyotrophic lateral sclerosis GTR C1836076
html:p memo related-gene gene-symbol ghr-page db key
X-linked dominant C9orf72 https://ghr.nlm.nih.gov/gene/C9orf72 GTR C1837728
related-gene gene-symbol ghr-page db key
CHCHD10 https://ghr.nlm.nih.gov/gene/CHCHD10 GTR C1842674
related-gene gene-symbol ghr-page db key
CHMP2B https://ghr.nlm.nih.gov/gene/CHMP2B GTR C1842675
related-gene gene-symbol ghr-page db key
DCTN1 https://ghr.nlm.nih.gov/gene/DCTN1 GTR C1847735
related-gene gene-symbol ghr-page db key
ERBB4 https://ghr.nlm.nih.gov/gene/ERBB4 GTR C1859807
related-gene gene-symbol ghr-page db key
FIG4 https://ghr.nlm.nih.gov/gene/FIG4 GTR C1862937
related-gene gene-symbol ghr-page db key
html:p FUS https://ghr.nlm.nih.gov/gene/FUS GTR C1862939
related-gene gene-symbol ghr-page db key
HNRNPA1 https://ghr.nlm.nih.gov/gene/HNRNPA1 GTR C1865409
related-gene gene-symbol ghr-page db key
MATR3 https://ghr.nlm.nih.gov/gene/MATR3 GTR C1865864
related-gene gene-symbol ghr-page db key
NEFH https://ghr.nlm.nih.gov/gene/NEFH GTR C2675491
related-gene gene-symbol ghr-page db key
OPTN https://ghr.nlm.nih.gov/gene/OPTN GTR C2677565
related-gene gene-symbol ghr-page db key
PFN1 https://ghr.nlm.nih.gov/gene/PFN1 GTR C2678468
related-gene gene-symbol ghr-page db key
PRPH https://ghr.nlm.nih.gov/gene/PRPH GTR C3150692
related-gene gene-symbol ghr-page db key
SETX https://ghr.nlm.nih.gov/gene/SETX GTR C3151403
related-gene gene-symbol ghr-page db key
html:p SIGMAR1 https://ghr.nlm.nih.gov/gene/SIGMAR1 GTR C3275459
related-gene gene-symbol ghr-page db key
SMN1 https://ghr.nlm.nih.gov/gene/SMN1 GTR C3280587
related-gene gene-symbol ghr-page db key
SOD1 https://ghr.nlm.nih.gov/gene/SOD1 GTR C3553719
related-gene gene-symbol ghr-page db key
html:p SPG11 https://ghr.nlm.nih.gov/gene/SPG11 GTR C3715155
related-gene gene-symbol ghr-page db key
SQSTM1 https://ghr.nlm.nih.gov/gene/SQSTM1 GTR C3715156
related-gene gene-symbol ghr-page db key
TARDBP https://ghr.nlm.nih.gov/gene/TARDBP GTR C4225325
related-gene gene-symbol ghr-page db key
TBK1 https://ghr.nlm.nih.gov/gene/TBK1 GTR C4225326
related-gene gene-symbol ghr-page db key
TRPM7 https://ghr.nlm.nih.gov/gene/TRPM7 GeneReviews als-ftd
related-gene gene-symbol ghr-page db key
TUBA4A https://ghr.nlm.nih.gov/gene/TUBA4A GeneReviews als-overview
related-gene gene-symbol ghr-page db key
UBQLN2 https://ghr.nlm.nih.gov/gene/UBQLN2 GeneReviews iahsp
related-gene gene-symbol ghr-page db key
VAPB https://ghr.nlm.nih.gov/gene/VAPB GeneReviews tardbp-als
related-gene gene-symbol ghr-page db key
VCP https://ghr.nlm.nih.gov/gene/VCP ICD-10-CM G12.21
db key
MeSH D000690
db key
OMIM 105400
db key
OMIM 105500
db key
OMIM 105550
db key
OMIM 205100
db key
OMIM 300857
db key
OMIM 602099
db key
OMIM 602433
db key
OMIM 606640
db key
OMIM 608030
db key
OMIM 608031
db key
OMIM 608627
db key
OMIM 611895
db key
OMIM 612069
db key
OMIM 612577
db key
OMIM 613435
db key
OMIM 613954
db key
OMIM 614373
db key
OMIM 614696
db key
OMIM 614808
db key
OMIM 615426
db key
OMIM 615515
db key
OMIM 615911
db key
OMIM 616208
db key
OMIM 616437
db key
OMIM 616439
db key
Orphanet 803
db key
Orphanet 275872
db key
Orphanet 90020
db key
SNOMED CT 230258005
db key
SNOMED CT 86044005
Anauxetic dysplasia https://ghr.nlm.nih.gov/condition/anauxetic-dysplasia Anauxetic dysplasia is a very rare disorder; its prevalence is unknown. html memo related-gene gene-symbol ghr-page AD db key 2017-07 2017-12-29
html:p autosomal recessive POP1 https://ghr.nlm.nih.gov/gene/POP1 spondylometaepiphyseal dysplasia, anauxetic type GTR C1846796
related-gene gene-symbol ghr-page spondylometaepiphyseal dysplasia, Menger type db key
RMRP https://ghr.nlm.nih.gov/gene/RMRP GeneReviews chh
db key
html:p MeSH D004392
db key
OMIM 607095
db key
OMIM 617396
db key
Orphanet 93347
html:p
html:p
Andermann syndrome https://ghr.nlm.nih.gov/condition/andermann-syndrome Andermann syndrome is most often seen in the French-Canadian population of html memo related-gene gene-symbol ghr-page ACCPN db key 2008-06 2017-12-29
the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. In this html:p autosomal recessive SLC12A6 https://ghr.nlm.nih.gov/gene/SLC12A6 agenesis of corpus callosum with neuronopathy GTR C0795950
population, Andermann syndrome occurs in almost 1 in 2,000 newborns. Only a few agenesis of corpus callosum with peripheral neuropathy db key
individuals with this disorder have been identified in other regions of the agenesis of corpus callosum with polyneuropathy GeneReviews accpn
world. Charlevoix disease db key
html:p hereditary motor and sensory neuropathy with agenesis of the corpus callosum MeSH D006211
HMSN/ACC db key
MeSH D015417
db key
OMIM 218000
db key
Orphanet 1496
db key
html:p SNOMED CT 702439002
html:p
html:p
html:p
Andersen-Tawil syndrome https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome Andersen-Tawil syndrome is a rare genetic disorder; its incidence is html code memo related-gene gene-symbol synonym db-key db key 2006-04 2017-12-29
unknown. About 100 people with this condition have been reported worldwide. html:p ad autosomal dominant KCNJ2 synonym GTR C1563715
synonym db-key db key
synonym GeneReviews acpp
synonym db-key db key
synonym MeSH D050030
db-key db key
OMIM 170390
db-key db key
html:p Orphanet 37553
db-key db key
SNOMED CT 422348008
html:p
Androgen insensitivity syndrome https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people html memo related-gene gene-symbol ghr-page AIS db key 2016-11 2017-12-29
who are genetically male. Partial androgen insensitivity is thought to be at html:p X-linked recessive AR https://ghr.nlm.nih.gov/gene/AR androgen receptor deficiency GTR C0039585
least as common as complete androgen insensitivity. Mild androgen insensitivity androgen resistance syndrome db key
is much less common. AR deficiency GTR CN035075
DHTR deficiency db key
dihydrotestosterone receptor deficiency GTR CN037063
db key
html:p GeneReviews androgen
db key
ICD-10-CM E34.5
db key
ICD-10-CM E34.50
db key
ICD-10-CM E34.51
db key
ICD-10-CM E34.52
db key
html:p MeSH D013734
db key
OMIM 300068
db key
Orphanet 754
db key
Orphanet 90797
db key
Orphanet 99429
db key
SNOMED CT 12313004
db key
SNOMED CT 52832001
db key
SNOMED CT 58672003
Androgenetic alopecia https://ghr.nlm.nih.gov/condition/androgenetic-alopecia Androgenetic alopecia is a frequent cause of hair loss in both men and html memo related-gene gene-symbol ghr-page androgenic alopecia db key 2015-08 2017-12-29
women. This form of hair loss affects an estimated 50 million men and 30 million html:p pattern unknown AR https://ghr.nlm.nih.gov/gene/AR female pattern baldness GTR C0162311
women in the United States. Androgenetic alopecia can start as early as a male pattern alopecia db key
person's teens and risk increases with age; more than 50 percent of men over age male pattern baldness GTR C2676272
50 have some degree of hair loss. In women, hair loss is most likely after pattern baldness db key
menopause. GTR C2678038
html:p db key
ICD-10-CM L64
db key
html:p ICD-10-CM L64.8
db key
ICD-10-CM L64.9
db key
MeSH D000505
db key
OMIM 109200
db key
OMIM 300710
db key
OMIM 612421
db key
SNOMED CT 1108009
db key
SNOMED CT 201144006
db key
SNOMED CT 87872006
Anencephaly https://ghr.nlm.nih.gov/condition/anencephaly Anencephaly is one of the most common types of neural tube defect, html memo related-gene gene-symbol ghr-page anencephalia db key 2014-11 2017-12-29
affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end html:p pattern unknown MTHFR https://ghr.nlm.nih.gov/gene/MTHFR anencephalus GTR C0002902
in miscarriage, so the prevalence of this condition in newborns is much lower. aprosencephaly db key
An estimated 1 in 10,000 infants in the United States is born with anencephaly. congenital absence of brain GTR C0027794
db key
GTR C1866558
db key
html:p ICD-10-CM Q00.0
db key
MeSH D000757
db key
OMIM 182940
db key
OMIM 206500
html:p db key
OMIM 601634
db key
Orphanet 1048
db key
SNOMED CT 277922001
db key
SNOMED CT 85641006
db key
SNOMED CT 89369001
Angelman syndrome https://ghr.nlm.nih.gov/condition/angelman-syndrome Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people. html memo related-gene gene-symbol ghr-page AS db key 2015-05 2017-12-29
html:p not inherited OCA2 https://ghr.nlm.nih.gov/gene/OCA2 GTR C0162635
related-gene gene-symbol ghr-page db key
UBE3A https://ghr.nlm.nih.gov/gene/UBE3A GeneReviews angelman
related-chromosome name ghr-page db key
15 https://ghr.nlm.nih.gov/chromosome/15 MeSH D017204
db key
OMIM 105830
html:p db key
Orphanet 72
db key
SNOMED CT 76880004
html:p
Anhidrotic ectodermal dysplasia with immune deficiency https://ghr.nlm.nih.gov/condition/anhidrotic-ectodermal-dysplasia-with-immune-de The prevalence of the X-linked recessive type of EDA-ID is estimated to be html memo related-gene gene-symbol ghr-page ectodermal dysplasia, hypohidrotic, with immune deficiency db key 2017-03 2017-12-29
ficiency 1 in 250,000 individuals. Only a few cases of the autosomal dominant form have html:p autosomal dominant IKBKG https://ghr.nlm.nih.gov/gene/IKBKG EDA-ID GTR C1846006
been described in the scientific literature. memo related-gene gene-symbol ghr-page HED-ID db key
X-linked recessive NFKBIA https://ghr.nlm.nih.gov/gene/NFKBIA hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia GTR C1846007
hypohidrotic ectodermal dysplasia with immune deficiency db key
ICD-10-CM Q82.4
db key
MeSH D053358
html:p db key
OMIM 300291
db key
Orphanet 98813
db key
SNOMED CT 703525006
html:p
html:p
html:p
Aniridia https://ghr.nlm.nih.gov/condition/aniridia Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide. html memo related-gene gene-symbol ghr-page absent iris db key 2009-06 2017-12-29
html:p autosomal dominant PAX6 https://ghr.nlm.nih.gov/gene/PAX6 congenital aniridia GTR C0003076
irideremia db key
GeneReviews aniridia
db key
ICD-10-CM Q13.1
html:p db key
MeSH D015783
db key
OMIM 106210
db key
Orphanet 77
db key
SNOMED CT 253231007
db key
SNOMED CT 253232000
html:p db key
SNOMED CT 69278003
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-p AEC syndrome is a rare condition; its prevalence is unknown. All forms of html memo related-gene gene-symbol ghr-page AEC syndrome db key 2011-06 2017-12-29
alate-syndrome ectodermal dysplasia together occur in about 1 in 100,000 newborns in the United html:p autosomal dominant TP63 https://ghr.nlm.nih.gov/gene/TP63 ankyloblepharon-ectodermal defects-cleft lip and palate syndrome GTR C0406709
States. Hay-Wells syndrome db key
GTR C1785148
db key
html:p GeneReviews aec
db key
MeSH D004476
db key
OMIM 106260
db key
OMIM 129400
db key
Orphanet 1071
html:p db key
SNOMED CT 55821006
html:p
html:p
Ankylosing spondylitis https://ghr.nlm.nih.gov/condition/ankylosing-spondylitis Ankylosing spondylitis is part of a group of related diseases known as html memo related-gene gene-symbol ghr-page AS db key 2014-09 2017-12-29
spondyloarthropathies. In the United States, spondyloarthropathies affect 3.5 html:p pattern unknown ERAP1 https://ghr.nlm.nih.gov/gene/ERAP1 Bechterew disease GTR C0038013
to 13 per 1,000 people. related-gene gene-symbol ghr-page Marie-Struempell disease db key
HLA-B https://ghr.nlm.nih.gov/gene/HLA-B spondylarthritis ankylopoietica ICD-10-CM M08.1
related-gene gene-symbol ghr-page spondylitis ankylopoietica db key
IL1A https://ghr.nlm.nih.gov/gene/IL1A spondylitis, ankylosing ICD-10-CM M45
related-gene gene-symbol ghr-page spondyloarthritis ankylopoietica db key
html:p IL23R https://ghr.nlm.nih.gov/gene/IL23R ICD-10-CM M45.0
db key
ICD-10-CM M45.1
db key
ICD-10-CM M45.2
db key
ICD-10-CM M45.3
db key
ICD-10-CM M45.4
db key
html:p ICD-10-CM M45.5
db key
ICD-10-CM M45.6
db key
ICD-10-CM M45.7
db key
ICD-10-CM M45.8
db key
ICD-10-CM M45.9
db key
MeSH D013167
db key
OMIM 106300
db key
Orphanet 825
db key
SNOMED CT 9631008
Ankyrin-B syndrome https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome Ankyrin-B syndrome is a rare disorder. Its prevalence is unknown. html memo related-gene gene-symbol ghr-page cardiac arrhythmia, ankyrin-B-related db key 2017-03 2017-12-29
html:p autosomal dominant ANK2 https://ghr.nlm.nih.gov/gene/ANK2 GTR C1970119
db key
GeneReviews rws
db key
MeSH D001145
db key
html:p OMIM 600919
html:p
Anonychia congenita https://ghr.nlm.nih.gov/condition/anonychia-congenita Anonychia congenita is a rare condition; its prevalence is unknown. html memo related-gene gene-symbol ghr-page absent nails db key 2017-05 2017-12-29
html:p autosomal recessive RSPO4 https://ghr.nlm.nih.gov/gene/RSPO4 anonychia GTR C0265998
aplastic nails db key
congenital absence of nails ICD-10-CM Q84.3
hyponychia congenita db key
MeSH D009264
db key
OMIM 206800
html:p db key
Orphanet 79143
db key
SNOMED CT 23610003
Antiphospholipid syndrome https://ghr.nlm.nih.gov/condition/antiphospholipid-syndrome The exact prevalence of antiphospholipid syndrome is unknown. This html memo synonym anti-phospholipid syndrome db-key key 2017-12-29
condition is thought to be fairly common, and may be responsible for up to one html:p pattern unknown synonym antiphospholipid antibody syndrome C0085278
percent of all thromboses. It is estimated that 20 percent of individuals synonym Hughes syndrome db-key key
younger than age 50 who have a stroke have antiphospholipid syndrome. Ten to 15 D68.61
percent of people with systemic lupus erythematosus have antiphospholipid db-key key
syndrome. Similarly, 10 to 15 percent of women with recurrent miscarriages D016736
likely have this condition. Approximately 70 percent of individuals diagnosed db-key key
with antiphospholipid syndrome are female. 107320
db-key key
html:p 80
db-key key
19267009
db-key key
239892009
db-key key
239895006
html:p db-key key
26843008
db-key key
html:p 72161000119100
html:p
Apert syndrome https://ghr.nlm.nih.gov/condition/apert-syndrome Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. html memo related-gene gene-symbol ghr-page Acrocephalosyndactyly (Apert) db key 2008-02 2017-12-29
html:p autosomal dominant FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 GTR C0001193
db key
GeneReviews craniosynostosis
db key
html:p MeSH D000168
db key
OMIM 101200
db key
Orphanet 87
db key
Orphanet 1531
db key
html:p SNOMED CT 205258009
Arginase deficiency https://ghr.nlm.nih.gov/condition/arginase-deficiency Arginase deficiency is a very rare disorder; it has been estimated to occur html memo related-gene gene-symbol ghr-page ARG1 deficiency db key 2013-08 2017-12-29
once in every 300,000 to 1,000,000 individuals. html:p autosomal recessive ARG1 https://ghr.nlm.nih.gov/gene/ARG1 Arginase Deficiency Disease GTR C0268548
Argininemia db key
Hyperargininemia GeneReviews arg1
db key
GeneReviews ucd-overview
html:p db key
ICD-10-CM E72.21
db key
MeSH D020162
db key
OMIM 207800
db key
Orphanet 90
db key
html:p SNOMED CT 23501004
Arginine:glycine amidinotransferase deficiency https://ghr.nlm.nih.gov/condition/arginineglycine-amidinotransferase-deficiency The prevalence of arginine:glycine amidinotransferase deficiency is html memo related-gene gene-symbol ghr-page AGAT deficiency db key 2015-12 2017-12-29
unknown. The disorder has been identified in only a few families. html:p autosomal recessive GATM https://ghr.nlm.nih.gov/gene/GATM cerebral creatine deficiency syndrome 3 GTR C2675179
creatine deficiency syndrome due to AGAT deficiency db key
GATM deficiency GeneReviews creatine
l-arginine:glycine amidinotransferase deficiency db key
l-arginine:glycine aminidotransferase deficiency MeSH D020739
html:p db key
OMIM 612718
db key
Orphanet 35704
db key
SNOMED CT 702440000
Argininosuccinic aciduria https://ghr.nlm.nih.gov/condition/argininosuccinic-aciduria Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns. html memo related-gene gene-symbol ghr-page Argininosuccinate lyase deficiency db key 2007-03 2017-12-29
html:p autosomal recessive ASL https://ghr.nlm.nih.gov/gene/ASL argininosuccinic acidemia GTR C0268547
Argininosuccinicaciduria db key
argininosuccinyl-CoA lyase deficiency GeneReviews args-aciduria
arginosuccinase deficiency db key
html:p ASA GeneReviews ucd-overview
ASAuria db key
ASL deficiency ICD-10-CM E72.22
db key
MeSH D056807
db key
OMIM 207900
html:p db key
Orphanet 23
db key
SNOMED CT 41013004
Aromatase deficiency https://ghr.nlm.nih.gov/condition/aromatase-deficiency The prevalence of aromatase deficiency is unknown; approximately 20 cases html memo related-gene gene-symbol ghr-page 46,XX disorder of sex development (DSD) due to placental aromatase deficiency db key 2014-04 2017-12-29
have been described in the medical literature. html:p autosomal recessive CYP19A1 https://ghr.nlm.nih.gov/gene/CYP19A1 estrogen synthetase deficiency GTR C0878680
oestrogen synthetase deficiency db key
placental aromatase deficiency MeSH D017588
html:p db key
OMIM 613546
db key
SNOMED CT 425708006
db key
SNOMED CT 427627006
html:p
html:p
html:p
Aromatase excess syndrome https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome The prevalence of aromatase excess syndrome is unknown; more than 20 cases html memo related-gene gene-symbol ghr-page AEXS db key 2014-04 2017-12-29
have been described in the medical literature. html:p autosomal dominant CYP19A1 https://ghr.nlm.nih.gov/gene/CYP19A1 familial gynecomastia due to increased aromatase activity GTR C1841762
hereditary gynecomastia db key
increased aromatase activity MeSH D012734
db key
OMIM 139300
db key
Orphanet 178345
db key
SNOMED CT 709075008
Aromatic l-amino acid decarboxylase deficiency https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency AADC deficiency is a rare disorder. Only about 100 people with this html memo related-gene gene-symbol ghr-page AADC deficiency db key 2008-05 2017-12-29
condition have been described in the medical literature worldwide; about 20 html:p autosomal recessive DDC https://ghr.nlm.nih.gov/gene/DDC DDC deficiency GTR C1291564
percent of these individuals are from Taiwan. deficiency of aromatic-L-amino-acid decarboxylase db key
dopa decarboxylase deficiency MeSH D000592
html:p db key
OMIM 608643
db key
Orphanet 35708
db key
SNOMED CT 124600004
html:p
html:p
Arrhythmogenic right ventricular cardiomyopathy https://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopath ARVC occurs in an estimated 1 in 1,000 to 1 in 1,250 people. This disorder html memo related-gene gene-symbol ghr-page arrhythmogenic right ventricular cardiomyopathy-dysplasia db key 2010-05 2017-12-29
y may be underdiagnosed because it can be difficult to detect in people with mild html:p autosomal dominant DSC2 https://ghr.nlm.nih.gov/gene/DSC2 arrhythmogenic right ventricular dysplasia GTR C0349788
or no symptoms. memo related-gene gene-symbol ghr-page arrhythmogenic right ventricular dysplasia/cardiomyopathy db key
autosomal recessive DSG2 https://ghr.nlm.nih.gov/gene/DSG2 ARVC GTR C1832931
related-gene gene-symbol ghr-page ARVD db key
DSP https://ghr.nlm.nih.gov/gene/DSP ARVD/C GTR C1836704
html:p related-gene gene-symbol ghr-page right ventricular dysplasia, arrhythmogenic db key
JUP https://ghr.nlm.nih.gov/gene/JUP ventricular dysplasia, right, arrhythmogenic GTR C1836906
related-gene gene-symbol ghr-page db key
PKP2 https://ghr.nlm.nih.gov/gene/PKP2 GTR C1843896
related-gene gene-symbol ghr-page db key
RYR2 https://ghr.nlm.nih.gov/gene/RYR2 GTR C1857777
related-gene gene-symbol ghr-page db key
TGFB3 https://ghr.nlm.nih.gov/gene/TGFB3 GTR C1858378
related-gene gene-symbol ghr-page db key
TMEM43 https://ghr.nlm.nih.gov/gene/TMEM43 GTR C1858379
db key
GTR C1862511
db key
GTR C1864850
db key
GTR C1865881
db key
GTR C1865882
db key
GTR C1969081
db key
GTR CN128708
db key
GeneReviews arvd
db key
MeSH D019571
db key
OMIM 107970
db key
OMIM 600996
db key
OMIM 602086
db key
OMIM 602087
db key
OMIM 604400
db key
OMIM 604401
db key
OMIM 607450
db key
OMIM 609040
db key
OMIM 610193
db key
OMIM 610476
db key
OMIM 611528
db key
Orphanet 247
db key
Orphanet 217656
db key
SNOMED CT 253528005
db key
SNOMED CT 281170005
Arterial tortuosity syndrome https://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome Arterial tortuosity syndrome is a rare disorder; its prevalence is unknown. html memo related-gene gene-symbol ghr-page arterial tortuosity db key 2015-11 2017-12-29
About 100 cases have been reported in the medical literature. html:p autosomal recessive SLC2A10 https://ghr.nlm.nih.gov/gene/SLC2A10 ATS GTR C1859726
db key
GeneReviews arterial-t
html:p db key
MeSH D054079
db key
OMIM 208050
db key
Orphanet 3342
db key
SNOMED CT 458432002
html:p
html:p
html:p
Arts syndrome https://ghr.nlm.nih.gov/condition/arts-syndrome Arts syndrome appears to be extremely rare. Only a few families with this html memo related-gene gene-symbol ghr-page ataxia-deafness-optic atrophy, lethal db key 2014-09 2017-12-29
disorder have been described in the medical literature. html:p X-linked dominant PRPS1 https://ghr.nlm.nih.gov/gene/PRPS1 ataxia, fatal X-linked, with deafness and loss of vision GTR C0796028
db key
GeneReviews arts
html:p db key
MeSH D009422
db key
OMIM 301835
db key
Orphanet 1187
db key
SNOMED CT 702441001
html:p
html:p
Aspartylglucosaminuria https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in html memo related-gene gene-symbol ghr-page AGA deficiency db key 2008-12 2017-12-29
Finland. This condition is less common outside of Finland, but the incidence is html:p autosomal recessive AGA https://ghr.nlm.nih.gov/gene/AGA aspartylglucosamidase deficiency GTR C0268225
unknown. Aspartylglucosaminidase deficiency db key
html:p aspartylglycosaminuria ICD-10-CM E77.1
glycosylasparaginase deficiency db key
MeSH D054880
db key
OMIM 208400
db key
Orphanet 93
db key
html:p SNOMED CT 54954004
Asphyxiating thoracic dystrophy https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to html memo related-gene gene-symbol ghr-page asphyxiating thoracic chondrodystrophy db key 2015-05 2017-12-29
130,000 people. html:p autosomal recessive CEP120 https://ghr.nlm.nih.gov/gene/CEP120 asphyxiating thoracic dysplasia GTR C0265275
related-gene gene-symbol ghr-page ATD db key
CSPP1 https://ghr.nlm.nih.gov/gene/CSPP1 chondroectodermal dysplasia-like syndrome GTR C1970005
related-gene gene-symbol ghr-page infantile thoracic dystrophy db key
DYNC2H1 https://ghr.nlm.nih.gov/gene/DYNC2H1 Jeune syndrome GTR C3151185
related-gene gene-symbol ghr-page Jeune thoracic dysplasia db key
IFT80 https://ghr.nlm.nih.gov/gene/IFT80 Jeune thoracic dystrophy GTR C3280598
related-gene gene-symbol ghr-page thoracic asphyxiant dystrophy db key
IFT140 https://ghr.nlm.nih.gov/gene/IFT140 thoracic-pelvic-phalangeal dystrophy GTR CN119532
related-gene gene-symbol ghr-page db key
IFT172 https://ghr.nlm.nih.gov/gene/IFT172 ICD-10-CM Q77.2
html:p related-gene gene-symbol ghr-page db key
TTC21B https://ghr.nlm.nih.gov/gene/TTC21B MeSH D010009
related-gene gene-symbol ghr-page db key
WDR19 https://ghr.nlm.nih.gov/gene/WDR19 OMIM 208500
related-gene gene-symbol ghr-page db key
WDR34 https://ghr.nlm.nih.gov/gene/WDR34 OMIM 263520
related-gene gene-symbol ghr-page db key
WDR35 https://ghr.nlm.nih.gov/gene/WDR35 OMIM 266920
related-gene gene-symbol ghr-page db key
WDR60 https://ghr.nlm.nih.gov/gene/WDR60 OMIM 611263
db key
OMIM 613091
db key
OMIM 613819
db key
OMIM 614091
db key
OMIM 614376
db key
OMIM 615503
db key
OMIM 615630
db key
OMIM 615633
db key
Orphanet 474
db key
SNOMED CT 75049004
Ataxia neuropathy spectrum https://ghr.nlm.nih.gov/condition/ataxia-neuropathy-spectrum The prevalence of ataxia neuropathy spectrum is unknown. html code memo related-gene gene-symbol synonym db-key db key 2011-06 2017-12-29
html:p ad autosomal dominant POLG synonym GTR C1843851
code memo related-gene gene-symbol synonym db-key db key
ar autosomal recessive TWNK synonym GeneReviews alpers
synonym db-key db key
MeSH D028361
html:p db-key db key
OMIM 607459
db-key db key
Orphanet 70595
db-key db key
SNOMED CT 193165008
html:p
Ataxia-pancytopenia syndrome https://ghr.nlm.nih.gov/condition/ataxia-pancytopenia-syndrome Ataxia-pancytopenia syndrome appears to be very rare. At least 25 affected html memo related-gene gene-symbol ghr-page ATXPC db key 2017-09 2017-12-29
individuals from four families have been described in the medical literature. html:p autosomal dominant SAMD9L https://ghr.nlm.nih.gov/gene/SAMD9L myelocerebellar disorder GTR C1327919
db key
GeneReviews samd9l-ap
db key
html:p MeSH D001259
db key
MeSH D010198
db key
OMIM 159550
db key
OMIM 252270
db key
html:p Orphanet 2585
Ataxia-telangiectasia https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide. html memo related-gene gene-symbol ghr-page A-T db key 2013-01 2017-12-29
html:p autosomal recessive ATM https://ghr.nlm.nih.gov/gene/ATM ataxia telangiectasia syndrome GTR C0004135
ATM db key
Louis-Bar syndrome GeneReviews ataxia-telangiectas
telangiectasia, cerebello-oculocutaneous db key
MeSH D001260
db key
OMIM 208900
db key
Orphanet 100
db key
SNOMED CT 68504005
html:p
html:p
Ataxia with oculomotor apraxia https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia Ataxia with oculomotor apraxia is a rare condition. Type 1 is a common form html memo related-gene gene-symbol ghr-page adult onset ataxia with oculomotor apraxia db key 2015-04 2017-12-29
of ataxia in Portugal and Japan. Type 2 is estimated to occur in 1 in 900,000 html:p autosomal recessive APTX https://ghr.nlm.nih.gov/gene/APTX EAOH GTR C1853761
individuals worldwide. related-gene gene-symbol ghr-page early-onset ataxia with ocular motor apraxia and hypoalbuminemia db key
PIK3R5 https://ghr.nlm.nih.gov/gene/PIK3R5 SCAN2 GTR C1859598
related-gene gene-symbol ghr-page SCAR1 db key
PNKP https://ghr.nlm.nih.gov/gene/PNKP spinocerebellar ataxia with axonal neuropathy type 2 GTR C3554690
related-gene gene-symbol ghr-page spinocerebellar ataxia, recessive, non-Friedreich type 1 db key
html:p SETX https://ghr.nlm.nih.gov/gene/SETX GTR C4225397
db key
GeneReviews aoa
db key
GeneReviews aoa2
db key
MeSH D002524
db key
OMIM 208920
db key
OMIM 606002
db key
OMIM 615217
db key
html:p OMIM 616267
db key
Orphanet 1168
db key
Orphanet 64753
db key
SNOMED CT 715366004
Ataxia with vitamin E deficiency https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency Ataxia with vitamin E deficiency is a rare condition; however, its html memo related-gene gene-symbol ghr-page ataxia with isolated vitamin E deficiency db key 2015-12 2017-12-29
prevalence is unknown. html:p autosomal recessive TTPA https://ghr.nlm.nih.gov/gene/TTPA AVED GTR C1848533
familial isolated vitamin E deficiency db key
FIVE GeneReviews aved
Friedreich ataxia phenotype with selective vitamin E deficiency db key
Friedreich-like ataxia MeSH D014811
db key
OMIM 277460
db key
SNOMED CT 702442008
Atelosteogenesis type 1 https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-1 Atelosteogenesis type 1 is a rare disorder; its exact prevalence is html memo related-gene gene-symbol ghr-page AOI db key 2011-09 2017-12-29
unknown. Only a few dozen affected individuals have been identified. html:p autosomal dominant FLNB https://ghr.nlm.nih.gov/gene/FLNB atelosteogenesis type I GTR C0265283
giant cell chondrodysplasia db key
spondylohumerofemoral hypoplasia GeneReviews flnb-dis
db key
MeSH D010009
db key
OMIM 108720
db key
Orphanet 1190
db key
html:p SNOMED CT 43814000
Atelosteogenesis type 2 https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-2 Atelosteogenesis type 2 is an extremely rare genetic disorder; its html memo related-gene gene-symbol ghr-page AO2 db key 2008-02 2017-12-29
incidence is unknown. html:p autosomal recessive SLC26A2 https://ghr.nlm.nih.gov/gene/SLC26A2 Atelosteogenesis de la Chapelle type GTR C1850554
atelosteogenesis, type 2 db key
De la Chapelle dysplasia GeneReviews ao2
McAlister dysplasia db key
Neonatal osseous dysplasia 1 MeSH D010009
db key
html:p OMIM 256050
db key
Orphanet 56304
db key
SNOMED CT 254055004
Atelosteogenesis type 3 https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-3 Atelosteogenesis type 3 is a rare disorder; its exact prevalence is html memo related-gene gene-symbol ghr-page AOIII db key 2011-09 2017-12-29
unknown. About two dozen affected individuals have been identified. html:p autosomal dominant FLNB https://ghr.nlm.nih.gov/gene/FLNB atelosteogenesis type III GTR C3668942
db key
GeneReviews flnb-dis
db key
MeSH D010009
db key
OMIM 108721
db key
Orphanet 56305
db key
html:p SNOMED CT 43814000
Atopic dermatitis https://ghr.nlm.nih.gov/condition/atopic-dermatitis Atopic dermatitis is a common disorder that affects 10 to 20 percent of html memo related-gene gene-symbol ghr-page atopic eczema db key 2017-10 2017-12-29
children and 5 to 10 percent of adults. html:p autosomal dominant CARD11 https://ghr.nlm.nih.gov/gene/CARD11 GTR C0011615
related-gene gene-symbol ghr-page db key
FLG https://ghr.nlm.nih.gov/gene/FLG GTR C1853965
db key
GTR CN417134
db key
ICD-10-CM L20.9
db key
ICD-10-CM L20.82
db key
ICD-10-CM L20.83
db key
ICD-10-CM L20.84
db key
html:p ICD-10-CM L20.89
db key
MeSH D003876
db key
OMIM 603165
db key
OMIM 605803
db key
OMIM 617638
db key
html:p SNOMED CT 24079001
db key
SNOMED CT 402189008
db key
SNOMED CT 402194008
html:p
html:p
Atypical hemolytic-uremic syndrome https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome The incidence of atypical hemolytic-uremic syndrome is estimated to be 1 in html memo related-gene gene-symbol ghr-page aHUS db key 2010-06 2017-12-29
500,000 people per year in the United States. The atypical form is probably html:p autosomal dominant C3 https://ghr.nlm.nih.gov/gene/C3 non-Shiga-like toxin-associated HUS GTR C2749604
about 10 times less common than the typical form. memo related-gene gene-symbol ghr-page non-Stx-HUS db key
autosomal recessive CD46 https://ghr.nlm.nih.gov/gene/CD46 nonenteropathic HUS GTR C2752036
related-gene gene-symbol ghr-page db key
CFB https://ghr.nlm.nih.gov/gene/CFB GTR C2752037
related-gene gene-symbol ghr-page db key
html:p CFH https://ghr.nlm.nih.gov/gene/CFH GTR C2752038
related-gene gene-symbol ghr-page db key
CFHR5 https://ghr.nlm.nih.gov/gene/CFHR5 GTR C2752039
related-gene gene-symbol ghr-page db key
CFI https://ghr.nlm.nih.gov/gene/CFI GTR C2752040
related-gene gene-symbol ghr-page db key
html:p THBD https://ghr.nlm.nih.gov/gene/THBD GTR C2931788
db key
GeneReviews husa
db key
ICD-10-CM D59.3
html:p db key
MeSH D006463
db key
OMIM 235400
db key
html:p OMIM 612922
db key
OMIM 612923
db key
OMIM 612924
db key
OMIM 612925
db key
OMIM 612926
db key
Orphanet 2134
db key
SNOMED CT 373422007
Auriculo-condylar syndrome https://ghr.nlm.nih.gov/condition/auriculo-condylar-syndrome Auriculo-condylar syndrome appears to be a rare disorder. More than two html memo related-gene gene-symbol ghr-page auriculocondylar syndrome db key 2013-01 2017-12-29
dozen affected individuals have been described in the medical literature. html:p autosomal dominant GNAI3 https://ghr.nlm.nih.gov/gene/GNAI3 dysgnathia complex GTR C1865295
related-gene gene-symbol ghr-page question-mark ear syndrome db key
html:p PLCB4 https://ghr.nlm.nih.gov/gene/PLCB4 GTR C3553404
db key
MeSH D004427
db key
OMIM 602483
db key
OMIM 614669
db key
Orphanet 137888
html:p db key
SNOMED CT 702443003
html:p
https://ghr.nlm.nih.gov/condition/autism-spectrum-disorder ASD is a common condition, and affects almost five times as many males as html memo related-gene gene-symbol ghr-page ASD db key 2017-06 2017-12-29
females.The number of children diagnosed with ASD has been increasing rapidly in html:p pattern unknown ADNP https://ghr.nlm.nih.gov/gene/ADNP autistic continuum GTR C1510586
the past few decades. The prevalence of the disorder in the United States was related-gene gene-symbol ghr-page pervasive developmental disorder db key
estimated as 1 in 68 children in 2014, up from 1 in 88 only two years earlier. ANK2 https://ghr.nlm.nih.gov/gene/ANK2 ICD-10-CM F84.0
In the 1980s, before the term ASD was used, the prevalence of autism was related-gene gene-symbol ghr-page db key
reported to be about 1 in 2,000. However, it is unclear whether this represents ARID1B https://ghr.nlm.nih.gov/gene/ARID1B MeSH D000067877
a true increase in the prevalence of ASD or reflects changes in the way related-gene gene-symbol ghr-page db key
behaviors characteristic of the disorder have been diagnosed and categorized. ASH1L https://ghr.nlm.nih.gov/gene/ASH1L OMIM 209850
html:p related-gene gene-symbol ghr-page db key
ASXL3 https://ghr.nlm.nih.gov/gene/ASXL3 SNOMED CT 408856003
related-gene gene-symbol ghr-page
CACNA1H https://ghr.nlm.nih.gov/gene/CACNA1H
related-gene gene-symbol ghr-page
CHD2 https://ghr.nlm.nih.gov/gene/CHD2
related-gene gene-symbol ghr-page
CHD8 https://ghr.nlm.nih.gov/gene/CHD8
related-gene gene-symbol ghr-page
CNTN4 https://ghr.nlm.nih.gov/gene/CNTN4
related-gene gene-symbol ghr-page
html:p CNTNAP2 https://ghr.nlm.nih.gov/gene/CNTNAP2
related-gene gene-symbol ghr-page
CTNND2 https://ghr.nlm.nih.gov/gene/CTNND2
related-gene gene-symbol ghr-page
DSCAM https://ghr.nlm.nih.gov/gene/DSCAM
related-gene gene-symbol ghr-page
DYRK1A https://ghr.nlm.nih.gov/gene/DYRK1A
html:p related-gene gene-symbol ghr-page
GABRB3 https://ghr.nlm.nih.gov/gene/GABRB3
related-gene gene-symbol ghr-page
GRIN2B https://ghr.nlm.nih.gov/gene/GRIN2B
related-gene gene-symbol ghr-page
KATNAL2 https://ghr.nlm.nih.gov/gene/KATNAL2
related-gene gene-symbol ghr-page
html:p KDM5B https://ghr.nlm.nih.gov/gene/KDM5B
related-gene gene-symbol ghr-page
MECP2 https://ghr.nlm.nih.gov/gene/MECP2
related-gene gene-symbol ghr-page
html:p MYT1L https://ghr.nlm.nih.gov/gene/MYT1L
related-gene gene-symbol ghr-page
NLGN3 https://ghr.nlm.nih.gov/gene/NLGN3
related-gene gene-symbol ghr-page
NRXN1 https://ghr.nlm.nih.gov/gene/NRXN1
related-gene gene-symbol ghr-page
POGZ https://ghr.nlm.nih.gov/gene/POGZ
related-gene gene-symbol ghr-page
PTCHD1 https://ghr.nlm.nih.gov/gene/PTCHD1
related-gene gene-symbol ghr-page
PTEN https://ghr.nlm.nih.gov/gene/PTEN
related-gene gene-symbol ghr-page
RELN https://ghr.nlm.nih.gov/gene/RELN
related-gene gene-symbol ghr-page
SCN2A https://ghr.nlm.nih.gov/gene/SCN2A
related-gene gene-symbol ghr-page
SHANK2 https://ghr.nlm.nih.gov/gene/SHANK2
related-gene gene-symbol ghr-page
SHANK3 https://ghr.nlm.nih.gov/gene/SHANK3
related-gene gene-symbol ghr-page
SYNGAP1 https://ghr.nlm.nih.gov/gene/SYNGAP1
related-gene gene-symbol ghr-page
TBR1 https://ghr.nlm.nih.gov/gene/TBR1
Autoimmune Addison disease https://ghr.nlm.nih.gov/condition/autoimmune-addison-disease Addison disease affects approximately 11 to 14 in 100,000 people of html memo related-gene gene-symbol ghr-page autoimmune Addison's disease db key 2017-01 2017-12-29
European descent. The autoimmune form of the disorder is the most common form in html:p pattern unknown CIITA https://ghr.nlm.nih.gov/gene/CIITA autoimmune adrenalitis GTR C1868690
developed countries, accounting for up to 90 percent of cases. related-gene gene-symbol ghr-page classic Addison disease db key
CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 primary Addison disease ICD-10-CM E27.1
related-gene gene-symbol ghr-page db key
CYP27B1 https://ghr.nlm.nih.gov/gene/CYP27B1 ICD-10-CM E27.2
html:p related-gene gene-symbol ghr-page db key
HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 MeSH D000224
related-gene gene-symbol ghr-page db key
HLA-DQB1 https://ghr.nlm.nih.gov/gene/HLA-DQB1 Orphanet 85138
related-gene gene-symbol ghr-page db key
HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 SNOMED CT 363732003
related-gene gene-symbol ghr-page
MICA https://ghr.nlm.nih.gov/gene/MICA
related-gene gene-symbol ghr-page
NLRP1 https://ghr.nlm.nih.gov/gene/NLRP1
related-gene gene-symbol ghr-page
PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22
html:p
html:p
html:p
Autoimmune lymphoproliferative syndrome https://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome ALPS is a rare disorder; its prevalence is unknown. More than 200 affected html memo related-gene gene-symbol ghr-page ALPS db key 2014-07 2017-12-29
individuals have been identified worldwide. html:p autosomal dominant CASP8 https://ghr.nlm.nih.gov/gene/CASP8 Canale-Smith syndrome GTR C1328840
memo related-gene gene-symbol ghr-page db key
autosomal recessive CASP10 https://ghr.nlm.nih.gov/gene/CASP10 GTR C1858968
related-gene gene-symbol ghr-page db key
FAS https://ghr.nlm.nih.gov/gene/FAS GTR C1866119
related-gene gene-symbol ghr-page db key
html:p FASLG https://ghr.nlm.nih.gov/gene/FASLG GTR C1866120
related-gene gene-symbol ghr-page db key
KRAS https://ghr.nlm.nih.gov/gene/KRAS GTR C1866121
html:p related-gene gene-symbol ghr-page db key
NRAS https://ghr.nlm.nih.gov/gene/NRAS GTR C2674723
db key
GeneReviews alps
db key
ICD-10-CM D89.82
db key
MeSH D056735
db key
OMIM 601859
db key
html:p OMIM 603909
db key
OMIM 607271
db key
OMIM 614470
db key
SNOMED CT 702444009
html:p
html:p
html:p
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy https://ghr.nlm.nih.gov/condition/autoimmune-polyendocrinopathy-candidiasis-ecto APECED occurs in about 1 in 90,000 to 200,000 people in most populations html code memo related-gene gene-symbol synonym db-key db key 2016-10 2017-12-29
dermal-dystrophy studied, which have been mainly in Europe. This condition occurs more frequently html:p ar autosomal recessive AIRE synonym GTR C0085859
in certain populations, affecting about 1 in 9,000 to 25,000 people among synonym db-key db key
Iranian Jews, Sardinians, and Finns. synonym GTR C1855869
synonym db-key db key
html:p synonym GTR C2749602
synonym db-key db key
synonym ICD-10-CM E31.0
synonym db-key db key
synonym MeSH D016884
html:p db-key db key
OMIM 240300
db-key db key
Orphanet 3453
db-key db key
SNOMED CT 11244009
html:p
html:p
html:p
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy https://ghr.nlm.nih.gov/condition/autosomal-dominant-cerebellar-ataxia-deafness- The prevalence of ADCADN is unknown. At least 24 affected individuals have html memo related-gene gene-symbol ghr-page ADCA-DN syndrome db key 2017-07 2017-12-29
and-narcolepsy been described in the medical literature. html:p autosomal dominant DNMT1 https://ghr.nlm.nih.gov/gene/DNMT1 ADCADN GTR C1858804
autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome db key
cerebellar ataxia, deafness, and narcolepsy, autosomal dominant GeneReviews ataxias
html:p db key
MeSH D002524
db key
OMIM 604121
db key
Orphanet 314404
db key
SNOMED CT 722293005
html:p
Autosomal dominant congenital stationary night blindness https://ghr.nlm.nih.gov/condition/autosomal-dominant-congenital-stationary-night Autosomal dominant congenital stationary night blindness is likely a rare html memo related-gene gene-symbol ghr-page adCSNB db key 2013-11 2017-12-29
-blindness disease; however, its prevalence is unknown. html:p autosomal dominant GNAT1 https://ghr.nlm.nih.gov/gene/GNAT1 CSNBAD GTR C0339535
related-gene gene-symbol ghr-page night blindness, congenital stationary, autosomal dominant db key
PDE6B https://ghr.nlm.nih.gov/gene/PDE6B ICD-10-CM H53.63
related-gene gene-symbol ghr-page db key
RHO https://ghr.nlm.nih.gov/gene/RHO MeSH D009755
db key
OMIM 163500
html:p db key
OMIM 610444
db key
OMIM 610445
db key
Orphanet 215
db key
SNOMED CT 232061009
Autosomal dominant hyper-IgE syndrome https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome This condition is rare, affecting fewer than 1 per million people. html memo related-gene gene-symbol ghr-page AD-HIES db key 2015-10 2017-12-29
html:p autosomal dominant STAT3 https://ghr.nlm.nih.gov/gene/STAT3 autosomal dominant HIES GTR C0022398
autosomal dominant hyper-IgE recurrent infection syndrome db key
autosomal dominant hyperimmunoglobulin E recurrent infection syndrome GeneReviews higes
autosomal dominant Job syndrome db key
Buckley syndrome ICD-10-CM D82.4
Job-Buckley syndrome db key
Job syndrome MeSH D007589
Job's Syndrome db key
STAT3 deficiency OMIM 147060
html:p STAT3-deficient hyper IgE syndrome db key
Orphanet 2314
db key
SNOMED CT 50926003
html:p
Autosomal dominant hypocalcemia https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia The prevalence of autosomal dominant hypocalcemia is unknown. The condition html memo related-gene gene-symbol ghr-page ADH db key 2015-02 2017-12-29
is likely underdiagnosed because it often causes no signs or symptoms. html:p autosomal dominant CASR https://ghr.nlm.nih.gov/gene/CASR autosomal dominant hypoparathyroidism GTR CN228164
related-gene gene-symbol ghr-page familial hypercalciuric hypocalcemia db key
GNA11 https://ghr.nlm.nih.gov/gene/GNA11 familial hypocalcemia MeSH D006996
db key
OMIM 601198
db key
OMIM 615361
db key
Orphanet 428
html:p db key
SNOMED CT 711152006
html:p
html:p
html:p
Autosomal dominant leukodystrophy with autonomic disease https://ghr.nlm.nih.gov/condition/autosomal-dominant-leukodystrophy-with-autonom The exact prevalence of ADLD is unknown. At least 70 affected individuals html memo related-gene gene-symbol ghr-page ADLD db key 2016-09 2017-12-29
ic-disease have been described in the scientific literature, although this condition is html:p autosomal dominant LMNB1 https://ghr.nlm.nih.gov/gene/LMNB1 adult-onset autosomal dominant leukodystrophy with autonomic symptoms GTR C1868512
likely to be underdiagnosed. autosomal dominant adult-onset demyelinating leukodystrophy db key
LMNB1-related adult-onset autosomal dominant leukodystrophy GeneReviews lad-ad
db key
MeSH D020279
db key
html:p Orphanet 99027
db key
SNOMED CT 448054001
html:p
html:p
Autosomal dominant nocturnal frontal lobe https://ghr.nlm.nih.gov/condition/autosomal-dominant-nocturnal-frontal-lobe-epil ADNFLE appears to be an uncommon form of ; its prevalence is html memo related-gene gene-symbol ghr-page ADNFLE db key 2009-04 2017-12-29
epsy unknown. This condition has been reported in more than 100 families worldwide. html:p autosomal dominant CHRNA2 https://ghr.nlm.nih.gov/gene/CHRNA2 GTR C1835905
related-gene gene-symbol ghr-page db key
CHRNA4 https://ghr.nlm.nih.gov/gene/CHRNA4 GTR C1838049
related-gene gene-symbol ghr-page db key
html:p CHRNB2 https://ghr.nlm.nih.gov/gene/CHRNB2 GTR C1854335
related-gene gene-symbol ghr-page db key
KCNT1 https://ghr.nlm.nih.gov/gene/KCNT1 GTR C1864125
db key
GeneReviews adnfle
db key
MeSH D017034
db key
html:p OMIM 600513
db key
OMIM 603204
db key
OMIM 605375
db key
OMIM 610353
db key
html:p Orphanet 309
db key
SNOMED CT 230445007
db key
html:p SNOMED CT 698021005
Autosomal dominant partial with auditory features https://ghr.nlm.nih.gov/condition/autosomal-dominant-partial--with-audit This condition appears to be uncommon, although its prevalence is unknown. html memo related-gene gene-symbol ghr-page ADLTE db key 2008-07 2017-12-29
ory-features html:p autosomal dominant LGI1 https://ghr.nlm.nih.gov/gene/LGI1 ADPEAF GTR C1838062
Autosomal dominant lateral temporal lobe db key
, partial, with auditory features GeneReviews peaf
ETL1 db key
MeSH D004828
db key
OMIM 600512
db key
Orphanet 98820
db key
html:p SNOMED CT 72103000
html:p
Autosomal dominant vitreoretinochoroidopathy https://ghr.nlm.nih.gov/condition/autosomal-dominant-vitreoretinochoroidopathy ADVIRC is considered a rare disease. Its prevalence is unknown. html memo related-gene gene-symbol ghr-page ADVIRC db key 2014-11 2017-12-29
html:p autosomal dominant BEST1 https://ghr.nlm.nih.gov/gene/BEST1 vitreoretinochoroidopathy dominant GTR C1860406
vitreoretinochoroidopathy with microcornea, glaucoma, and cataract db key
vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos MeSH D015785
db key
MeSH D058499
db key
OMIM 193220
html:p db key
Orphanet 3086
db key
SNOMED CT 711162004
html:p
Autosomal recessive axonal neuropathy with neuromyotonia https://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neu Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of html memo related-gene gene-symbol ghr-page ARAN-NM db key 2014-09 2017-12-29
romyotonia inherited peripheral neuropathy. This group of conditions affects an estimated 1 html:p autosomal recessive HINT1 https://ghr.nlm.nih.gov/gene/HINT1 autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia GTR CN074193
in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with autosomal recessive neuromyotonia and axonal neuropathy db key
neuromyotonia is unknown. Gamstorp-Wohlfart syndrome MeSH D010523
myokymia, myotonia, and muscle wasting db key
html:p NMAN OMIM 137200
db key
Orphanet 324442
db key
SNOMED CT 711406009
html:p
Autosomal recessive cerebellar ataxia type 1 https://ghr.nlm.nih.gov/condition/autosomal-recessive-cerebellar-ataxia-type-1 More than 100 people have been diagnosed with ARCA1. This condition was html memo related-gene gene-symbol ghr-page ARCA1 db key 2015-01 2017-12-29
first discovered in individuals from the Beauce and Bas-Saint-Laurent regions of html:p autosomal recessive SYNE1 https://ghr.nlm.nih.gov/gene/SYNE1 autosomal recessive spinocerebellar ataxia 8 GTR C1853116
Quebec, Canada, but it has since been found in populations worldwide. recessive ataxia of Beauce db key
GeneReviews syne1ca-ar
db key
MeSH D002524
db key
OMIM 610743
db key
Orphanet 88644
db key
SNOMED CT 230233000
Autosomal recessive congenital methemoglobinemia https://ghr.nlm.nih.gov/condition/autosomal-recessive-congenital-methemoglobinem The incidence of autosomal recessive congenital methemoglobinemia is html memo related-gene gene-symbol ghr-page chronic familial methemoglobin reductase deficiency db key 2015-05 2017-12-29
ia unknown. html:p autosomal recessive CYB5R3 https://ghr.nlm.nih.gov/gene/CYB5R3 congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency GTR C2749559
congenital NADH-methemoglobin reductase deficiency db key
cytochrome b5 reductase deficiency GTR C2749560
deficiency of cytochrome-b5 reductase db key
diaphorase deficiency ICD-10-CM D74.0
NADH-CYB5R deficiency db key
NADH-cytochrome b5 reductase deficiency MeSH D008708
db key
html:p OMIM 250800
db key
Orphanet 621
db key
Orphanet 139373
db key
Orphanet 139380
db key
SNOMED CT 234395000
html:p
Autosomal recessive congenital stationary night blindness https://ghr.nlm.nih.gov/condition/autosomal-recessive-congenital-stationary-nigh Autosomal recessive congenital stationary night blindness is likely a rare html memo related-gene gene-symbol ghr-page autosomal recessive complete congenital stationary night blindness db key 2014-01 2017-12-29
t-blindness disease; however, its prevalence is unknown. html:p autosomal recessive CABP4 https://ghr.nlm.nih.gov/gene/CABP4 autosomal recessive incomplete congenital stationary night blindness GTR C1850362
related-gene gene-symbol ghr-page db key
GPR179 https://ghr.nlm.nih.gov/gene/GPR179 GTR C1864877
related-gene gene-symbol ghr-page db key
GRM6 https://ghr.nlm.nih.gov/gene/GRM6 GTR C2750747
related-gene gene-symbol ghr-page db key
LRIT3 https://ghr.nlm.nih.gov/gene/LRIT3 GTR C3151193
related-gene gene-symbol ghr-page db key
html:p SLC24A1 https://ghr.nlm.nih.gov/gene/SLC24A1 GTR C3281215
related-gene gene-symbol ghr-page db key
TRPM1 https://ghr.nlm.nih.gov/gene/TRPM1 GTR C3554399
db key
ICD-10-CM H53.63
db key
MeSH D009755
db key
OMIM 257270
db key
OMIM 610427
db key
OMIM 613216
db key
OMIM 613830
db key
OMIM 614565
db key
OMIM 615058
db key
Orphanet 215
db key
SNOMED CT 232061009
Autosomal recessive hyper-IgE syndrome https://ghr.nlm.nih.gov/condition/autosomal-recessive-hyper-ige-syndrome AR-HIES is a rare disorder whose prevalence is unknown. html memo related-gene gene-symbol ghr-page AR-HIES db key 2015-10 2017-12-29
html:p autosomal recessive DOCK8 https://ghr.nlm.nih.gov/gene/DOCK8 autosomal recessive HIES GTR C0022398
CID due to DOCK8 deficiency db key
combined immunodeficiency due to DOCK8 deficiency ICD-10-CM D82.4
DOCK8 deficiency db key
DOCK8 immunodeficiency syndrome MeSH D007589
hyper IgE recurrent infection syndrome, autosomal recessive db key
html:p hyper immunoglobulin E syndrome, autosomal recessive OMIM 243700
hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive db key
hyperimmunoglobulin E syndrome type 2 Orphanet 169446
non-skeletal hyper-IgE syndrome db key
Orphanet 217390
html:p
html:p
html:p
Autosomal recessive hypotrichosis https://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis The worldwide prevalence of autosomal recessive hypotrichosis is unknown. html memo related-gene gene-symbol ghr-page AH db key 2013-04 2017-12-29
In Japan, the condition is estimated to affect 1 in 10,000 individuals. html:p autosomal recessive DSG4 https://ghr.nlm.nih.gov/gene/DSG4 autosomal recessive localized hypotrichosis GTR C1836672
related-gene gene-symbol ghr-page autosomal recessive woolly hair with or without hypotrichosis db key
LIPH https://ghr.nlm.nih.gov/gene/LIPH HTL GTR C1842839
related-gene gene-symbol ghr-page hypotrichoses db key
LPAR6 https://ghr.nlm.nih.gov/gene/LPAR6 hypotrichosis GTR C1848435
LAH db key
total hypotrichosis, Mari type MeSH D007039
db key
html:p OMIM 278150
db key
OMIM 604379
db key
OMIM 607903
db key
Orphanet 55654
db key
SNOMED CT 56558005
Autosomal recessive primary microcephaly https://ghr.nlm.nih.gov/condition/autosomal-recessive-primary-microcephaly The prevalence of all forms of microcephaly that are present from birth html memo related-gene gene-symbol ghr-page MCPH db key 2011-04 2017-12-29
(primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns html:p autosomal recessive ASPM https://ghr.nlm.nih.gov/gene/ASPM microcephaly primary hereditary GTR C1837501
worldwide. About 200 families with MCPH have been reported in the medical related-gene gene-symbol ghr-page primary autosomal recessive microcephaly db key
literature. This condition is more common in several specific populations, such CDK5RAP2 https://ghr.nlm.nih.gov/gene/CDK5RAP2 true microcephaly GTR C1842109
as in northern Pakistan, where it affects an estimated 1 in 10,000 newborns. related-gene gene-symbol ghr-page db key
html:p CENPJ https://ghr.nlm.nih.gov/gene/CENPJ GTR C1855081
related-gene gene-symbol ghr-page db key
CEP152 https://ghr.nlm.nih.gov/gene/CEP152 GTR C1858108
related-gene gene-symbol ghr-page db key
KNL1 https://ghr.nlm.nih.gov/gene/KNL1 GTR C1858516
related-gene gene-symbol ghr-page db key
MCPH1 https://ghr.nlm.nih.gov/gene/MCPH1 GTR C1858535
html:p related-gene gene-symbol ghr-page db key
STIL https://ghr.nlm.nih.gov/gene/STIL GTR C2675187
related-gene gene-symbol ghr-page db key
WDR62 https://ghr.nlm.nih.gov/gene/WDR62 GeneReviews microcephaly
html:p db key
ICD-10-CM Q02
db key
MeSH D008831
db key
OMIM 251200
db key
OMIM 604317
db key
OMIM 604321
db key
OMIM 604804
db key
OMIM 608393
db key
OMIM 608716
db key
OMIM 612703
db key
Orphanet 2512
db key
SNOMED CT 715981004
Autosomal recessive spastic ataxia of Charlevoix-Saguenay https://ghr.nlm.nih.gov/condition/autosomal-recessive-spastic-ataxia-of-charlevo The incidence of ARSACS in the Charlevoix-Saguenay region of Quebec is html memo related-gene gene-symbol ghr-page ARSACS db key 2013-06 2017-12-29
ix-saguenay estimated to be 1 in 1,500 to 2,000 individuals. Outside of Quebec, ARSACS is html:p autosomal recessive SACS https://ghr.nlm.nih.gov/gene/SACS Charlevoix-Saguenay spastic ataxia GTR C1849140
rare, but the incidence is unknown. spastic ataxia of Charlevoix-Saguenay db key
spastic ataxia, Charlevoix-Saguenay type GeneReviews arsacs
db key
MeSH D001259
db key
SNOMED CT 702445005
html:p
Axenfeld-Rieger syndrome https://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 html memo related-gene gene-symbol ghr-page ARS db key 2012-06 2017-12-29
people. html:p autosomal dominant FOXC1 https://ghr.nlm.nih.gov/gene/FOXC1 Axenfeld and Rieger anomaly GTR C0265341
related-gene gene-symbol ghr-page Axenfeld anomaly db key
PITX2 https://ghr.nlm.nih.gov/gene/PITX2 Axenfeld syndrome GTR C1832229
AXRA db key
AXRS GTR C2678503
Rieger anomaly db key
Rieger syndrome GTR C3714873
db key
ICD-10-CM Q13.81
html:p db key
MeSH D005124
db key
OMIM 180500
html:p db key
OMIM 601499
db key
OMIM 602482
db key
Orphanet 782
db key
SNOMED CT 204152008
db key
SNOMED CT 417604002
html:p
Baller-Gerold syndrome https://ghr.nlm.nih.gov/condition/baller-gerold-syndrome The prevalence of Baller-Gerold syndrome is unknown, but this rare html memo related-gene gene-symbol ghr-page BGS db key 2013-08 2017-12-29
condition probably affects fewer than 1 per million people. Fewer than 40 cases html:p autosomal recessive RECQL4 https://ghr.nlm.nih.gov/gene/RECQL4 craniosynostosis-radial aplasia syndrome GTR C0265308
have been reported in the medical literature. craniosynostosis with radial defects db key
GeneReviews bgs
html:p db key
MeSH D019465
db key
OMIM 218600
db key
Orphanet 1225
db key
html:p SNOMED CT 77608001
html:p
html:p
Bannayan-Riley-Ruvalcaba syndrome https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it html inheritance-pattern code memo related-gene ghr-page Bannayan-Ruvalcaba-Riley syndrome db-key db key 2012-09 2017-12-29
appears to be rare. Several dozen cases have been reported in the medical html:p ad autosomal dominant https://ghr.nlm.nih.gov/gene/PTEN Bannayan-Zonana syndrome GTR C0265326
literature. Researchers suspect that the disorder is underdiagnosed because its BRRS db-key db key
signs and symptoms vary and some of them are subtle. BZS GeneReviews phts
Myhre-Riley-Smith syndrome db-key db key
Riley-Smith syndrome ICD-10-CM E71.440
html:p Ruvalcaba-Myhre-Smith syndrome db-key db key
Ruvalcaba-Myhre syndrome MeSH D006223
db-key db key
OMIM 153480
db-key db key
Orphanet 109
db-key db key
html:p SNOMED CT 234138005
db-key db key
SNOMED CT 3073006
html:p
html:p
BAP1 tumor predisposition syndrome https://ghr.nlm.nih.gov/condition/bap1-tumor-predisposition-syndrome BAP1 tumor predisposition syndrome is a rare condition; its prevalence is html inheritance-pattern code memo gene-symbol synonym BAP1-related tumor predisposition syndrome db-key db key 2017-01 2017-12-29
unknown. More than 70 families with the condition have been described in the html:p ad autosomal dominant BAP1 synonym BAP1-TPDS GTR C3280492
medical literature. synonym COMMON syndrome db-key db key
synonym cutaneous/ocular melanoma, atypical melanocytic proliferations, and other GeneReviews bap1-tpds
internal neoplasms db-key db key
MeSH D009386
db-key db key
html:p Orphanet 289539
html:p
html:p
html:p
html:p
tumor predisposition syndrome appear to survive longer than those who have the
cancer without the syndrome.
Baraitser-Winter syndrome https://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have html memo related-gene gene-symbol ghr-page BRWS db key 2013-04 2017-12-29
been reported in the medical literature. html:p autosomal dominant ACTB https://ghr.nlm.nih.gov/gene/ACTB cerebro-frontofacial syndrome, type 3 GTR C1855722
related-gene gene-symbol ghr-page Fryns-Aftimos syndrome db key
html:p ACTG1 https://ghr.nlm.nih.gov/gene/ACTG1 iris coloboma with ptosis, hypertelorism, and mental retardation GTR C3281235
db key
GeneReviews baraitser-winter
db key
MeSH D054221
html:p db key
OMIM 243310
db key
OMIM 614583
db key
Orphanet 2995
db key
SNOMED CT 702410002
html:p
Bardet-Biedl syndrome https://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome In most of North America and Europe, Bardet-Biedl syndrome has a prevalence html memo related-gene gene-symbol ghr-page BBS db key 2013-09 2017-12-29
of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the html:p autosomal recessive ARL6 https://ghr.nlm.nih.gov/gene/ARL6 GTR C0752166
island of Newfoundland (off the east coast of Canada), where it affects an related-gene gene-symbol ghr-page db key
estimated 1 in 17,000 newborns. It also occurs more frequently in the Bedouin BBS1 https://ghr.nlm.nih.gov/gene/BBS1 GeneReviews bbs
population of Kuwait, affecting about 1 in 13,500 newborns. html:p related-gene gene-symbol ghr-page db key
BBS2 https://ghr.nlm.nih.gov/gene/BBS2 MeSH D020788
related-gene gene-symbol ghr-page db key
BBS4 https://ghr.nlm.nih.gov/gene/BBS4 OMIM 209900
related-gene gene-symbol ghr-page db key
BBS5 https://ghr.nlm.nih.gov/gene/BBS5 Orphanet 110
related-gene gene-symbol ghr-page db key
html:p BBS7 https://ghr.nlm.nih.gov/gene/BBS7 SNOMED CT 232059000
related-gene gene-symbol ghr-page db key
BBS9 https://ghr.nlm.nih.gov/gene/BBS9 SNOMED CT 5619004
related-gene gene-symbol ghr-page
BBS10 https://ghr.nlm.nih.gov/gene/BBS10
html:p related-gene gene-symbol ghr-page
BBS12 https://ghr.nlm.nih.gov/gene/BBS12
related-gene gene-symbol ghr-page
CEP290 https://ghr.nlm.nih.gov/gene/CEP290
related-gene gene-symbol ghr-page
MKKS https://ghr.nlm.nih.gov/gene/MKKS
html:p related-gene gene-symbol ghr-page
MKS1 https://ghr.nlm.nih.gov/gene/MKS1
related-gene gene-symbol ghr-page
TRIM32 https://ghr.nlm.nih.gov/gene/TRIM32
related-gene gene-symbol ghr-page
TTC8 https://ghr.nlm.nih.gov/gene/TTC8
Bare lymphocyte syndrome type I https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-i BLS I is a rare disorder with an unknown prevalence. About 30 affected html memo related-gene gene-symbol ghr-page HLA class I deficiency db key 2017-08 2017-12-29
individuals have been described in the medical literature. The condition is html:p autosomal recessive TAP1 https://ghr.nlm.nih.gov/gene/TAP1 ICD-10-CM D81.6
likely underdiagnosed, because doctors may not investigate the underlying cause related-gene gene-symbol ghr-page db key
of respiratory tract infections. TAP2 https://ghr.nlm.nih.gov/gene/TAP2 MeSH D007153
related-gene gene-symbol ghr-page db key
TAPBP https://ghr.nlm.nih.gov/gene/TAPBP OMIM 604571
html:p
html:p
Bare lymphocyte syndrome type II https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii BLS II is a rare condition. At least 100 cases have been reported in the html memo related-gene gene-symbol ghr-page bare lymphocyte syndrome type 2 db key 2017-06 2017-12-29
medical literature. While BLS II has been found in several populations html:p autosomal recessive CIITA https://ghr.nlm.nih.gov/gene/CIITA BLS type II GTR C1859534
throughout the world, it appears to be especially prevalent in the Mediterranean related-gene gene-symbol ghr-page major histocompatibility complex class II deficiency db key
region and North Africa. RFX5 https://ghr.nlm.nih.gov/gene/RFX5 MHC class II deficiency GTR C1859535
related-gene gene-symbol ghr-page SCID due to absence of class II HLA antigens db key
RFXANK https://ghr.nlm.nih.gov/gene/RFXANK SCID, HLA class 2-negative GTR C1859536
related-gene gene-symbol ghr-page SCID, HLA class II-negative db key
RFXAP https://ghr.nlm.nih.gov/gene/RFXAP severe combined immunodeficiency due to absent class II human leukocyte antigens GTR C1859537
html:p severe combined immunodeficiency, HLA class II-negative db key
GTR C1859538
db key
ICD-10-CM D81.7
db key
MeSH D007153
html:p db key
OMIM 209920
db key
Orphanet 572
db key
SNOMED CT 71904008
Bart-Pumphrey syndrome https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome Bart-Pumphrey syndrome is a rare disorder; its exact prevalence is unknown. html memo related-gene gene-symbol ghr-page knuckle pads, deafness, and leukonychia syndrome db key 2012-11 2017-12-29
Only a few affected families and individual cases have been identified. html:p autosomal dominant GJB2 https://ghr.nlm.nih.gov/gene/GJB2 knuckle pads, leukonychia, and sensorineural deafness GTR C0266004
db key
html:p MeSH D007645
db key
OMIM 149200
db key
SNOMED CT 1271009
html:p
html:p
Barth syndrome https://ghr.nlm.nih.gov/condition/barth-syndrome Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals html:p X-linked recessive TAZ https://ghr.nlm.nih.gov/gene/TAZ 3-methylglutaconic aciduria type 2 db key 2014-07 2017-12-29
worldwide. More than 150 cases have been described in the scientific literature. 3 methylglutaconic aciduria, type II GTR C0574083
BTHS db key
cardioskeletal myopathy with neutropenia and abnormal mitochondria GeneReviews barth
DNAJC19 defect db key
html:p MGA type 2 ICD-10-CM E78.71
MGA type II db key
TAZ defect MeSH D056889
db key
OMIM 302060
db key
Orphanet 111
db key
SNOMED CT 297231002
html:p
html:p
html:p
html:p
html:p
html:p
html:p
Bartter syndrome https://ghr.nlm.nih.gov/condition/bartter-syndrome The exact prevalence of this disorder is unknown, although it likely html:p autosomal recessive BSND https://ghr.nlm.nih.gov/gene/BSND aldosteronism with hyperplasia of the adrenal cortex db key 2011-02 2017-12-29
affects about 1 per million people worldwide. The condition appears to be more related-gene gene-symbol ghr-page Bartter disease GTR C0004775
common in Costa Rica and Kuwait than in other populations. html:p CLCNKA https://ghr.nlm.nih.gov/gene/CLCNKA Bartter's syndrome db key
related-gene gene-symbol ghr-page juxtaglomerular hyperplasia with secondary aldosteronism GTR C1846343
CLCNKB https://ghr.nlm.nih.gov/gene/CLCNKB db key
html:p related-gene gene-symbol ghr-page GTR C1865270
KCNJ1 https://ghr.nlm.nih.gov/gene/KCNJ1 db key
related-gene gene-symbol ghr-page GTR C2751312
SLC12A1 https://ghr.nlm.nih.gov/gene/SLC12A1 db key
GTR CN239220
db key
ICD-10-CM E26.81
db key
MeSH D001477
db key
OMIM 241200
html:p db key
OMIM 601678
db key
OMIM 602522
db key
OMIM 607364
db key
OMIM 613090
db key
Orphanet 112
db key
SNOMED CT 69194003
db key
SNOMED CT 707742001
Beare-Stevenson cutis gyrata syndrome https://ghr.nlm.nih.gov/condition/beare-stevenson-cutis-gyrata-syndrome Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its html:p autosomal dominant FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 cutis gyrata syndrome of Beare and Stevenson db key 2008-02 2017-12-29
incidence is unknown. Fewer than 20 people with this condition have been cutis gyrata syndrome of Beare-Stevenson GTR C1852406
reported worldwide. db key
GeneReviews craniosynostosis
html:p db key
MeSH D003398
db key
MeSH D012873
db key
OMIM 123790
html:p db key
Orphanet 1531
db key
Orphanet 1555
db key
html:p SNOMED CT 703528008
related-gene-list
Beckwith-Wiedemann syndrome https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome Beckwith-Wiedemann syndrome affects an estimated 1 in 13,700 newborns html:p autosomal dominant CDKN1C https://ghr.nlm.nih.gov/gene/CDKN1C BWS db key 2015-06 2017-12-29
worldwide. The condition may actually be more common than this estimate because related-gene gene-symbol ghr-page Wiedemann-Beckwith syndrome (WBS) GTR C0004903
some people with mild symptoms are never diagnosed. H19 https://ghr.nlm.nih.gov/gene/H19 db key
related-gene gene-symbol ghr-page GeneReviews bws
IGF2 https://ghr.nlm.nih.gov/gene/IGF2 db key
related-gene gene-symbol ghr-page MeSH D001506
KCNQ1OT1 https://ghr.nlm.nih.gov/gene/KCNQ1OT1 db key
related-chromosome name ghr-page OMIM 130650
11 https://ghr.nlm.nih.gov/chromosome/11 db key
html:p Orphanet 116
db key
SNOMED CT 81780002
html:p
html:p
Behçet disease https://ghr.nlm.nih.gov/condition/behcet-disease Behçet disease is most common in Mediterranean countries, the Middle East, html:p pattern unknown HLA-B https://ghr.nlm.nih.gov/gene/HLA-B Adamantiades-Behcet disease db key 2017-06 2017-12-29
Japan, and other parts of Asia. However, it has been found in populations Behcet disease GTR C0004943
worldwide.The highest prevalence of Behçet disease has been reported in northern Behcet syndrome db key
Turkey, where the disorder affects up to 420 in 100,000 people. The disorder is Behcet triple symptom complex ICD-10-CM M35.2
rare in northern European countries and the United States, where it generally html:p Behcet's syndrome db key
affects fewer than 1 in 100,000 people. malignant aphthosis MeSH D001528
Old Silk Route disease db key
triple symptom complex OMIM 109650
db key
Orphanet 117
html:p db key
SNOMED CT 310701003
html:p
html:p
html:p
html:p
Benign chronic pemphigus https://ghr.nlm.nih.gov/condition/benign-chronic-pemphigus Benign chronic pemphigus is a rare condition; its prevalence is unknown. html:p autosomal dominant ATP2C1 https://ghr.nlm.nih.gov/gene/ATP2C1 benign familial pemphigus db key 2016-06 2017-12-29
familial benign chronic pemphigus GTR C0085106
Hailey-Hailey disease db key
pemphigus, benign familial MeSH D016506
db key
OMIM 169600
html:p db key
Orphanet 2841
db key
SNOMED CT 79468000
html:p
related-gene-list
Benign essential blepharospasm https://ghr.nlm.nih.gov/condition/benign-essential-blepharospasm Benign essential blepharospasm affects an estimated 20,000 to 50,000 people html:p autosomal dominant DRD5 https://ghr.nlm.nih.gov/gene/DRD5 essential blepharospasm db key 2010-05 2017-12-29
in the United States. For unknown reasons, it occurs in women more than twice related-gene gene-symbol ghr-page eyelid twitching GTR C2930898
as often as it occurs in men. TOR1A https://ghr.nlm.nih.gov/gene/TOR1A primary blepharospasm db key
spasm of eyelids ICD-10-CM G24.5
db key
MeSH D001764
html:p db key
OMIM 606798
db key
Orphanet 93955
db key
SNOMED CT 59026006
html:p
related-gene-list
Benign familial neonatal https://ghr.nlm.nih.gov/condition/benign-familial-neonatal- Benign familial neonatal occurs in approximately 1 in 100,000 html:p autosomal dominant KCNQ2 https://ghr.nlm.nih.gov/gene/KCNQ2 benign familial neonatal convulsions db key 2011-05 2017-12-29
newborns. related-gene gene-symbol ghr-page benign familial neonatal GTR C1852581
KCNQ3 https://ghr.nlm.nih.gov/gene/KCNQ3 benign neonatal convulsions db key
benign neonatal GTR C1852587
BFNS db key
GTR CN200689
db key
GeneReviews bfns
html:p db key
GeneReviews kcnq3-dis
db key
MeSH D020936
db key
OMIM 121200
html:p db key
OMIM 121201
db key
SNOMED CT 230410004
related-gene-list
Benign recurrent intrahepatic cholestasis https://ghr.nlm.nih.gov/condition/benign-recurrent-intrahepatic-cholestasis BRIC is a rare disorder. Although the prevalence is unknown, this condition html:p autosomal recessive ABCB11 https://ghr.nlm.nih.gov/gene/ABCB11 ABCB11-related intrahepatic cholestasis db key 2012-04 2017-12-29
is less common than the related disorder PFIC, which affects approximately 1 in related-gene gene-symbol ghr-page ATP8B1-related intrahepatic cholestasis GTR C1855731
50,000 to 100,000 people worldwide. ATP8B1 https://ghr.nlm.nih.gov/gene/ATP8B1 BRIC db key
low gamma-GT familial intrahepatic cholestasis GTR C2608083
recurrent familial intrahepatic cholestasis db key
GeneReviews pfic
db key
html:p MeSH D002780
db key
OMIM 243300
db key
OMIM 605479
db key
SNOMED CT 31155007
html:p
html:p
related-gene-list
Bernard-Soulier syndrome https://ghr.nlm.nih.gov/condition/bernard-soulier-syndrome Bernard-Soulier syndrome is estimated to occur in 1 in 1 million html:p autosomal dominant GP1BA https://ghr.nlm.nih.gov/gene/GP1BA BDPLT1 db key 2016-06 2017-12-29
individuals; however, some doctors think the condition is underdiagnosed and may memo related-gene gene-symbol ghr-page bleeding disorder, platelet-type, 1 GTR C0005129
be more common. autosomal recessive GP1BB https://ghr.nlm.nih.gov/gene/GP1BB BSS db key
related-gene gene-symbol ghr-page deficiency of platelet glycoprotein 1b MeSH D001606
GP9 https://ghr.nlm.nih.gov/gene/GP9 giant platelet syndrome db key
glycoprotein Ib, platelet, deficiency of OMIM 153670
hemorrhagioparous thrombocytic dystrophy db key
macrothrombocytopenia, familial Bernard-Soulier type OMIM 231200
platelet glycoprotein Ib deficiency db key
von Willebrand factor receptor deficiency Orphanet 274
db key
related-gene-list SNOMED CT 54569005
Beta-ketothiolase deficiency https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency Beta-ketothiolase deficiency appears to be very rare. It is estimated to html:p autosomal recessive ACAT1 https://ghr.nlm.nih.gov/gene/ACAT1 2-alpha-methyl-3-hydroxybutyricacidemia db key 2008-01 2017-12-29
affect fewer than 1 in 1 million newborns. 3-alpha-ketothiolase deficiency GTR C1536500
3-alpha-ktd deficiency db key
3-alpha-oxothiolase deficiency MeSH D018901
html:p 3-Ketothiolase deficiency db key
3-Methylhydroxybutyric acidemia OMIM 203750
alpha-Methylacetoacetic aciduria db key
BKT Orphanet 134
MAT deficiency db key
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated SNOMED CT 124258007
Mitochondrial acetoacetyl-CoA thiolase deficiency db key
T2 deficiency SNOMED CT 124265004
β-ketothiolase deficiency db key
related-gene-list SNOMED CT 237953006
Beta-mannosidosis https://ghr.nlm.nih.gov/condition/beta-mannosidosis Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 html:p autosomal recessive MANBA https://ghr.nlm.nih.gov/gene/MANBA beta-D-mannosidosis db key 2008-01 2017-12-29
affected individuals have been reported worldwide. It is difficult to determine beta-mannosidase deficiency GTR C4048196
the specific incidence of beta-mannosidosis, because people with mild or html:p lysosomal beta A mannosidosis db key
non-specific symptoms may never be diagnosed. lysosomal beta-mannosidase deficiency MeSH D044905
db key
OMIM 248510
db key
Orphanet 118
html:p db key
SNOMED CT 238047006
related-gene-list
Beta-propeller protein-associated neurodegeneration https://ghr.nlm.nih.gov/condition/beta-propeller-protein-associated-neurodegener BPAN is a rare disorder. Its prevalence is unknown, but it is thought to html:p X-linked dominant WDR45 https://ghr.nlm.nih.gov/gene/WDR45 BPAN db key 2017-05 2017-12-29
ation account for between 1 and 2 percent of all cases of NBIA disorders. About 100 NBIA5 GTR CN168656
affected individuals have been described in the medical literature. Some neurodegeneration with brain iron accumulation 5 db key
individuals who have been diagnosed with disability or early-onset SENDA GeneReviews bpan
parkinsonism based on their signs and symptoms have later been found to have static encephalopathy of childhood with neurodegeneration in adulthood db key
BPAN when genetic testing was done. MeSH D020271
html:p db key
OMIM 300894
db key
Orphanet 329284
html:p
html:p
html:p
related-gene-list
Beta thalassemia https://ghr.nlm.nih.gov/condition/beta-thalassemia Beta thalassemia is a fairly common blood disorder worldwide. Thousands html:p autosomal recessive HBB https://ghr.nlm.nih.gov/gene/HBB erythroblastic anemia db key 2015-09 2017-12-29
of infants with beta thalassemia are born each year. Beta thalassemia occurs Mediterranean anemia GTR C0005283
most frequently in people from Mediterranean countries, North Africa, the Middle microcytemia, beta type db key
East, India, Central Asia, and Southeast Asia. html:p thalassemia, beta type GTR C1858990
db key
GeneReviews b-thal
db key
ICD-10-CM D56.1
html:p db key
MeSH D017086
db key
html:p OMIM 603902
db key
OMIM 613985
db key
Orphanet 848
db key
Orphanet 231214
db key
Orphanet 231222
db key
html:p SNOMED CT 111572002
db key
SNOMED CT 15326009
db key
SNOMED CT 191189009
db key
SNOMED CT 26682008
db key
SNOMED CT 27080008
db key
SNOMED CT 39586009
db key
SNOMED CT 47084006
db key
SNOMED CT 5967006
db key
SNOMED CT 61395005
db key
SNOMED CT 65959000
db key
SNOMED CT 716682000
db key
SNOMED CT 79592006
db key
related-gene-list SNOMED CT 86715000
Beta-ureidopropionase deficiency https://ghr.nlm.nih.gov/condition/beta-ureidopropionase-deficiency The prevalence of beta-ureidopropionase deficiency is unknown. A small html:p autosomal recessive UPB1 https://ghr.nlm.nih.gov/gene/UPB1 beta-alanine synthase deficiency db key 2014-08 2017-12-29
number of affected individuals from populations around the world have been deficiency of beta-ureidopropionase GTR C1291512
described in the medical literature. In Japan, the prevalence of db key
beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. MeSH D011686
Researchers suggest that in many affected individuals with absent or mild html:p db key
neurological problems, the condition may never be diagnosed. OMIM 613161
db key
Orphanet 65287
db key
SNOMED CT 124511000
html:p
related-gene-list
Bietti crystalline dystrophy https://ghr.nlm.nih.gov/condition/bietti-crystalline-dystrophy Bietti crystalline dystrophy has been estimated to occur in 1 in 67,000 html:p autosomal recessive CYP4V2 https://ghr.nlm.nih.gov/gene/CYP4V2 BCD db key 2012-11 2017-12-29
people. It is more common in people of East Asian descent, especially those of Bietti crystalline corneoretinal dystrophy GTR C1859486
Chinese and Japanese background. Researchers suggest that Bietti crystalline Bietti crystalline retinopathy db key
dystrophy may be underdiagnosed because its symptoms are similar to those of Bietti tapetoretinal degeneration with marginal corneal dystrophy GeneReviews bietti-cd
other eye disorders that progressively damage the retina. html:p db key
MeSH D012162
db key
OMIM 210370
db key
html:p Orphanet 41751
db key
SNOMED CT 312927001
related-gene-list
Biotin-thiamine-responsive basal ganglia disease https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disea Biotin-thiamine-responsive basal ganglia disease is a rare disorder; its html:p autosomal recessive SLC19A3 https://ghr.nlm.nih.gov/gene/SLC19A3 BBGD db key 2014-01 2017-12-29
se prevalence is unknown. Approximately 48 cases have been reported in the medical biotin-responsive basal ganglia disease GTR C1843807
literature; most of these are individuals from Arab populations. BTBGD db key
thiamine metabolism dysfunction syndrome 2 GeneReviews bgd-biotin
thiamine-responsive encephalopathy db key
thiamine transporter-2 deficiency MeSH D001480
THMD2 db key
OMIM 607483
html:p db key
SNOMED CT 703522009
html:p
related-gene-list
Biotinidase deficiency https://ghr.nlm.nih.gov/condition/biotinidase-deficiency Profound or partial biotinidase deficiency occurs in approximately 1 in html:p autosomal recessive BTD https://ghr.nlm.nih.gov/gene/BTD BIOT db key 2014-12 2017-12-29
60,000 newborns BTD deficiency GTR C0220754
carboxylase deficiency, multiple, late-onset db key
late-onset biotin-responsive multiple carboxylase deficiency GeneReviews biotin
html:p late-onset multiple carboxylase deficiency db key
multiple carboxylase deficiency, late-onset ICD-10-CM D81.810
db key
MeSH D028921
db key
OMIM 253260
html:p db key
Orphanet 148
db key
SNOMED CT 8808004
synonym-list db-key-list
disorder https://ghr.nlm.nih.gov/condition/-disorder disorder is a common form of mental illness. At some point during html:p pattern unknown synonym affective psychosis key 2017-12-29
their lifetime, 2.4 percent of people worldwide and 4.4 percent of people in the synonym spectrum disorder db-key C1839839
United States are diagnosed with this condition. synonym , key
html:p synonym manic illness db-key C1852197
key
db-key C1864994
key
db-key C1970943
key
db-key C1970944
key
db-key C1970945
html:p key
db-key C2700438
key
db-key C2700439
html:p key
db-key C2700440
key
db-key F31
key
db-key F31.0
key
db-key F31.1
key
db-key F31.2
key
db-key F31.3
key
db-key F31.4
key
db-key F31.5
key
db-key F31.6
key
db-key F31.7
key
db-key F31.8
key
db-key F31.9
key
db-key F31.10
key
db-key F31.11
key
db-key F31.12
key
db-key F31.13
key
db-key F31.30
key
db-key F31.31
key
db-key F31.32
key
db-key F31.60
key
db-key F31.61
key
db-key F31.62
key
db-key F31.63
key
db-key F31.64
key
db-key F31.70
key
db-key F31.71
key
db-key F31.72
key
db-key F31.73
key
db-key F31.74
key
db-key F31.75
key
db-key F31.76
key
db-key F31.77
key
db-key F31.78
key
db-key F31.81
key
db-key F31.89
key
db-key D001714
key
db-key 125480
key
db-key 309200
key
db-key 609633
key
db-key 611247
key
db-key 611535
key
db-key 611536
key
db-key 612357
key
db-key 612371
key
db-key 612372
key
related-gene-list 13746004
Birt-Hogg-Dubé syndrome https://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome Birt-Hogg-Dubé syndrome is rare; its exact incidence is unknown. This html:p autosomal dominant FLCN https://ghr.nlm.nih.gov/gene/FLCN BHD db key 2013-01 2017-12-29
condition has been reported in more than 400 families. fibrofolliculomas with trichodiscomas and acrochordons GTR C0346010
Hornstein-Birt-Hogg-Dubé syndrome db key
html:p Hornstein-Knickenberg syndrome GeneReviews bhd
db key
MeSH D058249
db key
OMIM 135150
db key
Orphanet 122
db key
SNOMED CT 110985001
related-gene-list
Björnstad syndrome https://ghr.nlm.nih.gov/condition/bjornstad-syndrome Björnstad syndrome is a rare condition, although its prevalence is unknown. html:p autosomal recessive BCS1L https://ghr.nlm.nih.gov/gene/BCS1L Bjornstad syndrome db key 2014-03 2017-12-29
It has been found in populations worldwide. BJS GTR C0266006
deafness and pili torti, Bjornstad type db key
pili torti and nerve deafness MeSH D028361
pili torti-deafness syndrome db key
pili torti-sensorineural hearing loss OMIM 262000
PTD db key
Orphanet 123
db key
html:p Orphanet 2889
db key
SNOMED CT 67817003
related-gene-list
Bladder cancer https://ghr.nlm.nih.gov/condition/bladder-cancer In the United States, bladder cancer is the fourth most common type of html:p not inherited FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 Cancer of the bladder db key 2007-01 2017-12-29
cancer in men and the ninth most common cancer in women. About 45,000 men and related-gene gene-symbol ghr-page Malignant tumor of urinary bladder GTR C0005684
17,000 women are diagnosed with bladder cancer each year. HRAS https://ghr.nlm.nih.gov/gene/HRAS Urinary bladder cancer db key
related-gene gene-symbol ghr-page ICD-10-CM C67
RB1 https://ghr.nlm.nih.gov/gene/RB1 db key
related-gene gene-symbol ghr-page ICD-10-CM C67.0
html:p TP53 https://ghr.nlm.nih.gov/gene/TP53 db key
related-gene gene-symbol ghr-page ICD-10-CM C67.1
TSC1 https://ghr.nlm.nih.gov/gene/TSC1 db key
related-chromosome name ghr-page ICD-10-CM C67.2
9 https://ghr.nlm.nih.gov/chromosome/9 db key
ICD-10-CM C67.3
db key
ICD-10-CM C67.4
db key
ICD-10-CM C67.5
db key
ICD-10-CM C67.6
db key
ICD-10-CM C67.7
db key
ICD-10-CM C67.8
db key
ICD-10-CM C67.9
db key
ICD-10-CM D09.0
db key
MeSH D001749
db key
OMIM 109800
db key
Orphanet 157980
db key
SNOMED CT 126885006
db key
SNOMED CT 255108000
db key
related-gene-list SNOMED CT 399326009
Blau syndrome https://ghr.nlm.nih.gov/condition/blau-syndrome Although Blau syndrome appears to be uncommon, its prevalence is unknown. html:p autosomal dominant NOD2 https://ghr.nlm.nih.gov/gene/NOD2 arthrocutaneouveal granulomatosis db key 2017-12 2017-12-29
early-onset sarcoidosis GTR C1836122
html:p familial granulomatosis, Blau type db key
familial juvenile systemic granulomatosis GTR C1861303
granulomatous inflammatory arthritis, dermatitis, and uveitis, familial db key
pediatric granulomatous arthritis MeSH D012507
html:p db key
OMIM 186580
db key
Orphanet 90340
db key
SNOMED CT 699861000
html:p
html:p
html:p
related-gene-list
Blepharocheilodontic syndrome https://ghr.nlm.nih.gov/condition/blepharocheilodontic-syndrome BCD syndrome is a rare disorder; its prevalence is unknown. At least 50 html:p autosomal dominant CDH1 https://ghr.nlm.nih.gov/gene/CDH1 BCD syndrome db key 2017-08 2017-12-29
affected individuals have been described in the medical literature. related-gene gene-symbol ghr-page BCDS MeSH D000015
CTNND1 https://ghr.nlm.nih.gov/gene/CTNND1 blepharo-cheilo-dontic syndrome db key
html:p blepharo-cheilo-odontic syndrome OMIM 119580
clefting, ectropion, and conical teeth db key
ectropion, inferior, with cleft lip and/or palate SNOMED CT 717911008
Elschnig syndrome
lagophthalmia with bilateral cleft lip and palate
html:p
html:p
related-gene-list
Blepharophimosis, ptosis, and epicanthus inversus syndrome https://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversu The prevalence of BPES is unknown. html:p autosomal dominant FOXL2 https://ghr.nlm.nih.gov/gene/FOXL2 blepharophimosis syndrome db key 2013-10 2017-12-29
s-syndrome blepharophimosis, ptosis, and epicanthus inversus GTR C0220663
BPES db key
GeneReviews bpes
db key
MeSH D005141
db key
html:p OMIM 110100
db key
Orphanet 126
db key
SNOMED CT 79833006
html:p
related-gene-list
Bloom syndrome https://ghr.nlm.nih.gov/condition/bloom-syndrome Bloom syndrome is a rare disorder. Only a few hundred affected individuals html:p autosomal recessive BLM https://ghr.nlm.nih.gov/gene/BLM Bloom-Torre-Machacek syndrome db key 2015-04 2017-12-29
have been described in the medical literature, about one-third of whom are of Bloom's syndrome GTR C0005859
Central and Eastern European (Ashkenazi) Jewish background. congenital telangiectatic erythema db key
html:p GeneReviews bloom
db key
MeSH D001816
html:p db key
OMIM 210900
db key
Orphanet 125
db key
SNOMED CT 4434006
html:p
html:p
related-gene-list
Bohring-Opitz syndrome https://ghr.nlm.nih.gov/condition/bohring-opitz-syndrome Bohring-Opitz syndrome is thought to be a rare condition, although its html:p autosomal dominant ASXL1 https://ghr.nlm.nih.gov/gene/ASXL1 Bohring syndrome db key 2016-12 2017-12-29
exact prevalence is unknown. More than 40 affected individuals have been BOPS GTR C0796232
described in the scientific literature. html:p C-like syndrome db key
Oberklaid-Danks syndrome MeSH D003398
Opitz trigonocephaly-like syndrome db key
MeSH D008607
db key
OMIM 605039
html:p db key
Orphanet 97297
db key
SNOMED CT 720565000
html:p
html:p
html:p
html:p
related-gene-list
Boomerang dysplasia https://ghr.nlm.nih.gov/condition/boomerang-dysplasia Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. html:p autosomal dominant FLNB https://ghr.nlm.nih.gov/gene/FLNB Piepkorn dysplasia db key 2011-09 2017-12-29
Approximately 10 affected individuals have been identified. GTR C0432201
db key
GeneReviews flnb-dis
db key
MeSH D010009
db key
html:p OMIM 112310
db key
Orphanet 1263
db key
SNOMED CT 254054000
html:p
related-gene-list
Bosma arhinia microphthalmia syndrome https://ghr.nlm.nih.gov/condition/bosma-arhinia-microphthalmia-syndrome BAMS is a very rare condition with an unknown prevalence. Fewer than 100 html:p autosomal dominant SMCHD1 https://ghr.nlm.nih.gov/gene/SMCHD1 arhinia choanal atresia microphthalmia db key 2017-07 2017-12-29
cases of the condition have been described in the medical literature. BAMS has arhinia, choanal atresia, and microphthalmia GTR C1863878
been found in several different populations. html:p arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism db key
BAM syndrome MeSH D000015
BAMS db key
Bosma syndrome OMIM 603457
Gifford-Bosma syndrome db key
Ruprecht Majewski syndrome Orphanet 1135
html:p db key
SNOMED CT 720511000
html:p
html:p
related-gene-list
Boucher-Neuhäuser syndrome https://ghr.nlm.nih.gov/condition/boucher-neuhauser-syndrome Boucher-Neuhäuser syndrome is a rare condition. Its prevalence is unknown. html:p ar autosomal recessive PNPLA6 synonym db-key db key 2016-10 2017-12-29
synonym GTR C1859093
synonym db-key db key
synonym GeneReviews pnpla6-dis
synonym db-key db key
MeSH D052439
html:p synonym db-key db key
OMIM 215470
db-key db key
Orphanet 1180
html:p db-key db key
SNOMED CT 715984007
html:p
html:p
html:p
related-gene-list
Bowen-Conradi syndrome https://ghr.nlm.nih.gov/condition/bowen-conradi-syndrome Bowen-Conradi syndrome is common in the Hutterite population in Canada and html:p autosomal recessive EMG1 https://ghr.nlm.nih.gov/gene/EMG1 Bowen-Conradi Hutterite syndrome db key 2015-02 2017-12-29
the United States; it occurs in approximately 1 per 355 newborns in all three Bowen Hutterite syndrome GTR C1859405
Hutterite sects (leuts). A few individuals from outside the Hutterite community Bowen syndrome, Hutterite type db key
with signs and symptoms similar to Bowen-Conradi syndrome have been described in BWCNS MeSH D000015
the medical literature. Researchers differ as to whether these individuals have Hutterite syndrome db key
Bowen-Conradi syndrome or a similar but distinct disorder. OMIM 211180
db key
Orphanet 1270
db key
SNOMED CT 711153001
html:p
html:p
related-gene-list
Bradyopsia https://ghr.nlm.nih.gov/condition/bradyopsia Bradyopsia appears to be rare. Only a few affected individuals worldwide html:p autosomal recessive RGS9 https://ghr.nlm.nih.gov/gene/RGS9 PERRS db key 2014-11 2017-12-29
have been described in the medical literature. related-gene gene-symbol ghr-page prolonged electroretinal response suppression GTR C1842073
RGS9BP https://ghr.nlm.nih.gov/gene/RGS9BP db key
MeSH D015785
db key
OMIM 608415
db key
html:p Orphanet 75374
db key
SNOMED CT 711163009
html:p
related-gene-list
Brain-lung-thyroid syndrome https://ghr.nlm.nih.gov/condition/brain-lung-thyroid-syndrome Brain-lung-thyroid syndrome is a rare disorder; its prevalence is unknown. html:p autosomal dominant NKX2-1 https://ghr.nlm.nih.gov/gene/NKX2-1 BLT syndrome db key 2017-01 2017-12-29
brain-thyroid-lung syndrome GTR C0393584
CAHTP db key
choreoathetosis, hypothyroidism, and neonatal respiratory distress GTR C1970269
chreoathetosis and congenital hypothyroidism with or without pulmonary db key
dysfunction GeneReviews nkx2-1-dis
db key
MeSH D002819
db key
html:p MeSH D003409
db key
MeSH D012127
db key
OMIM 610978
db key
Orphanet 209905
db key
SNOMED CT 719098007
html:p
html:p
related-gene-list
Branchio-oculo-facial syndrome https://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome Branchio-oculo-facial syndrome is a rare condition, although the prevalence html:p autosomal dominant TFAP2A https://ghr.nlm.nih.gov/gene/TFAP2A BOFS db key 2012-09 2017-12-29
is unknown. branchial clefts with characteristic facies, growth retardation, imperforate GTR C0376524
nasolacrimal duct, and premature aging db key
hemangiomatous branchial clefts-lip pseudocleft syndrome GeneReviews bofs
html:p lip pseudocleft-hemagiomatous branchial cyst syndrome db key
MeSH D019465
db key
OMIM 113620
db key
Orphanet 1297
db key
SNOMED CT 449821007
html:p
html:p
html:p
related-gene-list
Branchiootorenal/branchiootic syndrome https://ghr.nlm.nih.gov/condition/branchiootorenal-branchiootic-syndrome Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people. html:p autosomal dominant EYA1 https://ghr.nlm.nih.gov/gene/EYA1 BO syndrome db key 2016-03 2017-12-29
related-gene gene-symbol ghr-page BOR GTR C0265234
SIX1 https://ghr.nlm.nih.gov/gene/SIX1 BOR syndrome db key
related-gene gene-symbol ghr-page BOS GTR C1842124
SIX5 https://ghr.nlm.nih.gov/gene/SIX5 branchio-oto-renal syndrome db key
branchio-otorenal dysplasia GTR C1852718
branchio-otorenal syndrome db key
html:p branchiootic syndrome GTR C1865143
branchiootorenal dysplasia db key
branchiootorenal spectrum disorders GTR C1970479
branchiootorenal syndrome db key
Melnick-Fraser syndrome GeneReviews bor
db key
MeSH D019280
db key
OMIM 113650
html:p db key
OMIM 120502
db key
OMIM 602588
db key
OMIM 608389
db key
OMIM 610896
html:p db key
Orphanet 107
db key
Orphanet 52429
db key
SNOMED CT 290006
related-gene-list
Breast cancer https://ghr.nlm.nih.gov/condition/breast-cancer Breast cancer is the second most commonly diagnosed cancer in women. (Only html:p autosomal dominant ATM https://ghr.nlm.nih.gov/gene/ATM breast cancer, familial db key 2015-05 2017-12-29
skin cancer is more common.) About one in eight women in the United States will memo related-gene gene-symbol ghr-page breast carcinoma GTR C0346153
develop invasive breast cancer in her lifetime. Researchers estimate that more not inherited BARD1 https://ghr.nlm.nih.gov/gene/BARD1 cancer of breast db key
than 230,000 new cases of invasive breast cancer will be diagnosed in U.S. women memo related-gene gene-symbol ghr-page malignant neoplasm of breast GTR C1861906
in 2015.Male breast cancer represents less than 1 percent of all breast cancer pattern unknown BRCA1 https://ghr.nlm.nih.gov/gene/BRCA1 malignant tumor of breast db key
diagnoses. Scientists estimate that about 2,300 new cases of breast cancer will related-gene gene-symbol ghr-page mammary cancer GTR CN068448
be diagnosed in men in 2015.Particular gene mutations associated with breast BRCA2 https://ghr.nlm.nih.gov/gene/BRCA2 db key
cancer are more common among certain geographic or ethnic groups, such as people html:p related-gene gene-symbol ghr-page GeneReviews brca1
of Ashkenazi (central or eastern European) Jewish heritage and people of BRIP1 https://ghr.nlm.nih.gov/gene/BRIP1 db key
Norwegian, Icelandic, or Dutch ancestry. related-gene gene-symbol ghr-page GeneReviews hgc
CASP8 https://ghr.nlm.nih.gov/gene/CASP8 db key
related-gene gene-symbol ghr-page GeneReviews li-fraumeni
CDH1 https://ghr.nlm.nih.gov/gene/CDH1 db key
related-gene gene-symbol ghr-page GeneReviews phts
html:p CHEK2 https://ghr.nlm.nih.gov/gene/CHEK2 db key
related-gene gene-symbol ghr-page GeneReviews pjs
CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.01
html:p CYP19A1 https://ghr.nlm.nih.gov/gene/CYP19A1 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.02
FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.011
H19 https://ghr.nlm.nih.gov/gene/H19 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.11
LSP1 https://ghr.nlm.nih.gov/gene/LSP1 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.012
MAP3K1 https://ghr.nlm.nih.gov/gene/MAP3K1 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.019
MRE11 https://ghr.nlm.nih.gov/gene/MRE11 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.021
NBN https://ghr.nlm.nih.gov/gene/NBN db key
related-gene gene-symbol ghr-page ICD-10-CM C50.21
PALB2 https://ghr.nlm.nih.gov/gene/PALB2 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.022
PTEN https://ghr.nlm.nih.gov/gene/PTEN db key
related-gene gene-symbol ghr-page ICD-10-CM C50.22
RAD51 https://ghr.nlm.nih.gov/gene/RAD51 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.029
RAD51C https://ghr.nlm.nih.gov/gene/RAD51C db key
related-gene gene-symbol ghr-page ICD-10-CM C50.31
STK11 https://ghr.nlm.nih.gov/gene/STK11 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.32
TERT https://ghr.nlm.nih.gov/gene/TERT db key
related-gene gene-symbol ghr-page ICD-10-CM C50.41
TOX3 https://ghr.nlm.nih.gov/gene/TOX3 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.42
TP53 https://ghr.nlm.nih.gov/gene/TP53 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.51
XRCC2 https://ghr.nlm.nih.gov/gene/XRCC2 db key
related-gene gene-symbol ghr-page ICD-10-CM C50.52
XRCC3 https://ghr.nlm.nih.gov/gene/XRCC3 db key
ICD-10-CM C50.61
db key
ICD-10-CM C50.62
db key
ICD-10-CM C50.81
db key
ICD-10-CM C50.82
db key
ICD-10-CM C50.91
db key
ICD-10-CM C50.92
db key
ICD-10-CM C50.111
db key
ICD-10-CM C50.112
db key
ICD-10-CM C50.119
db key
ICD-10-CM C50.211
db key
ICD-10-CM C50.212
db key
ICD-10-CM C50.219
db key
ICD-10-CM C50.221
db key
ICD-10-CM C50.222
db key
ICD-10-CM C50.229
db key
ICD-10-CM C50.311
db key
ICD-10-CM C50.312
db key
ICD-10-CM C50.319
db key
ICD-10-CM C50.321
db key
ICD-10-CM C50.322
db key
ICD-10-CM C50.329
db key
ICD-10-CM C50.411
db key
ICD-10-CM C50.412
db key
ICD-10-CM C50.419
db key
ICD-10-CM C50.421
db key
ICD-10-CM C50.422
db key
ICD-10-CM C50.429
db key
ICD-10-CM C50.511
db key
ICD-10-CM C50.512
db key
ICD-10-CM C50.519
db key
ICD-10-CM C50.521
db key
ICD-10-CM C50.522
db key
ICD-10-CM C50.529
db key
ICD-10-CM C50.611
db key
ICD-10-CM C50.612
db key
ICD-10-CM C50.619
db key
ICD-10-CM C50.621
db key
ICD-10-CM C50.622
db key
ICD-10-CM C50.629
db key
ICD-10-CM C50.811
db key
ICD-10-CM C50.812
db key
ICD-10-CM C50.819
db key
ICD-10-CM C50.821
db key
ICD-10-CM C50.822
db key
ICD-10-CM C50.829
db key
ICD-10-CM C50.911
db key
ICD-10-CM C50.912
db key
ICD-10-CM C50.919
db key
ICD-10-CM C50.921
db key
ICD-10-CM C50.922
db key
ICD-10-CM C50.929
db key
ICD-10-CM D05.0
db key
ICD-10-CM D05.00
db key
ICD-10-CM D05.01
db key
ICD-10-CM D05.1
db key
ICD-10-CM D05.02
db key
ICD-10-CM D05.9
db key
ICD-10-CM D05.10
db key
ICD-10-CM D05.11
db key
ICD-10-CM D05.12
db key
ICD-10-CM D05.90
db key
ICD-10-CM D05.91
db key
ICD-10-CM D05.92
db key
ICD-10-CM Z15.01
db key
ICD-10-CM Z80.3
db key
MeSH D001943
db key
OMIM 114480
db key
OMIM 604370
db key
OMIM 612555
db key
Orphanet 227535
db key
SNOMED CT 126926005
db key
SNOMED CT 254837009
db key
SNOMED CT 254838004
db key
related-gene-list SNOMED CT 254843006
Brody myopathy https://ghr.nlm.nih.gov/condition/brody-myopathy Brody myopathy is a rare condition, although its exact prevalence is html:p autosomal dominant ATP2A1 https://ghr.nlm.nih.gov/gene/ATP2A1 Brody disease db key 2012-01 2017-12-29
unknown. memo GTR C1832918
autosomal recessive db key
MeSH D009135
db key
OMIM 601003
db key
html:p SNOMED CT 703530005
related-gene-list
Brooke-Spiegler syndrome https://ghr.nlm.nih.gov/condition/brooke-spiegler-syndrome Brooke-Spiegler syndrome is a rare disorder; its prevalence is unknown. html:p autosomal dominant CYLD https://ghr.nlm.nih.gov/gene/CYLD BRSS db key 2012-06 2017-12-29
BSS GTR C1857941
Spiegler-Brooke syndrome db key
MeSH D012878
db key
OMIM 605041
db key
SNOMED CT 703531009
html:p
related-gene-list
Brugada syndrome https://ghr.nlm.nih.gov/condition/brugada-syndrome The exact prevalence of Brugada syndrome is unknown, although it is html:p autosomal dominant CACNA1C https://ghr.nlm.nih.gov/gene/CACNA1C bangungut db key 2015-03 2017-12-29
estimated to affect 5 in 10,000 people worldwide. This condition occurs much related-gene gene-symbol ghr-page idiopathic ventricular fibrillation, Brugada type GTR C1142166
more frequently in people of Asian ancestry, particularly in Japanese and CACNA2D1 https://ghr.nlm.nih.gov/gene/CACNA2D1 Pokkuri death syndrome db key
Southeast Asian populations.Although Brugada syndrome affects both men and related-gene gene-symbol ghr-page sudden unexpected nocturnal death syndrome GTR CN029323
women, the condition appears to be 8 to 10 times more common in men. CACNB2 https://ghr.nlm.nih.gov/gene/CACNB2 sudden unexplained death syndrome db key
Researchers suspect that testosterone, a sex hormone present at much higher related-gene gene-symbol ghr-page SUDS GeneReviews brugada
levels in men, may account for this difference. html:p GPD1L https://ghr.nlm.nih.gov/gene/GPD1L SUNDS db key
related-gene gene-symbol ghr-page MeSH D053840
HCN4 https://ghr.nlm.nih.gov/gene/HCN4 db key
related-gene gene-symbol ghr-page OMIM 601144
KCND3 https://ghr.nlm.nih.gov/gene/KCND3 db key
related-gene gene-symbol ghr-page Orphanet 130
KCNE3 https://ghr.nlm.nih.gov/gene/KCNE3 db key
html:p related-gene gene-symbol ghr-page SNOMED CT 418818005
KCNE5 https://ghr.nlm.nih.gov/gene/KCNE5
related-gene gene-symbol ghr-page
KCNJ8 https://ghr.nlm.nih.gov/gene/KCNJ8
related-gene gene-symbol ghr-page
RANGRF https://ghr.nlm.nih.gov/gene/RANGRF
related-gene gene-symbol ghr-page
SCN1B https://ghr.nlm.nih.gov/gene/SCN1B
related-gene gene-symbol ghr-page
SCN2B https://ghr.nlm.nih.gov/gene/SCN2B
related-gene gene-symbol ghr-page
SCN3B https://ghr.nlm.nih.gov/gene/SCN3B
related-gene gene-symbol ghr-page
SCN5A https://ghr.nlm.nih.gov/gene/SCN5A
related-gene gene-symbol ghr-page
SLMAP https://ghr.nlm.nih.gov/gene/SLMAP
related-gene gene-symbol ghr-page
TRPM4 https://ghr.nlm.nih.gov/gene/TRPM4
related-gene-list
Burn-McKeown syndrome https://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome Burn-McKeown syndrome is a rare disorder; its prevalence is unknown. Only a html:p autosomal recessive TXNL4A https://ghr.nlm.nih.gov/gene/TXNL4A bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance db key 2016-08 2017-12-29
small number of affected individuals have been described in the medical BMKS GTR C1837822
literature. choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome db key
html:p oculo-oto-facial dysplasia GeneReviews burn-mckeown
oculootofacial dysplasia db key
OOFD MeSH D002754
db key
MeSH D003638
db key
MeSH D006330
db key
html:p MeSH D019066
db key
OMIM 608572
db key
Orphanet 1200
html:p db key
SNOMED CT 720640005
related-gene-list
Buschke-Ollendorff syndrome https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome Buschke-Ollendorff syndrome has an estimated incidence of 1 in 20,000 html:p autosomal dominant LEMD3 https://ghr.nlm.nih.gov/gene/LEMD3 dermatofibrosis disseminata lenticularis db key 2013-10 2017-12-29
people worldwide. dermatofibrosis lenticularis disseminata GTR C0265514
dermatofibrosis lenticularis disseminata with osteopoikilosis db key
dermatofibrosis, disseminated, with osteopoikilosis MeSH D010023
html:p dermatoosteopoikilosis db key
osteopathia condensans disseminata OMIM 166700
db key
Orphanet 1306
db key
SNOMED CT 60399005
html:p db key
SNOMED CT 9147009
related-gene-list
C3 glomerulopathy https://ghr.nlm.nih.gov/condition/c3-glomerulopathy C3 glomerulopathy is very rare, affecting 1 to 2 per million people html:p autosomal recessive ADAM19 https://ghr.nlm.nih.gov/gene/ADAM19 C3 glomerulonephritis db key 2015-12 2017-12-29
worldwide. It is equally common in men and women. related-gene gene-symbol ghr-page C3G GTR C0268743
C3 https://ghr.nlm.nih.gov/gene/C3 DDD db key
related-gene gene-symbol ghr-page DDD/MPGNII GTR C0398777
C3AR1 https://ghr.nlm.nih.gov/gene/C3AR1 dense deposit disease db key
related-gene gene-symbol ghr-page membranoproliferative glomerulonephritis type II GTR C3553720
html:p C8A https://ghr.nlm.nih.gov/gene/C8A db key
related-gene gene-symbol ghr-page GTR CN120381
CD46 https://ghr.nlm.nih.gov/gene/CD46 db key
related-gene gene-symbol ghr-page GTR CN187045
CFB https://ghr.nlm.nih.gov/gene/CFB db key
html:p related-gene gene-symbol ghr-page GeneReviews mpgn
CFD https://ghr.nlm.nih.gov/gene/CFD db key
related-gene gene-symbol ghr-page ICD-10-CM N00.6
CFH https://ghr.nlm.nih.gov/gene/CFH db key
related-gene gene-symbol ghr-page ICD-10-CM N01.6
html:p CFHR1 https://ghr.nlm.nih.gov/gene/CFHR1 db key
related-gene gene-symbol ghr-page ICD-10-CM N02.6
CFHR2 https://ghr.nlm.nih.gov/gene/CFHR2 db key
related-gene gene-symbol ghr-page ICD-10-CM N03.6
CFHR3 https://ghr.nlm.nih.gov/gene/CFHR3 db key
related-gene gene-symbol ghr-page ICD-10-CM N04.6
CFHR5 https://ghr.nlm.nih.gov/gene/CFHR5 db key
related-gene gene-symbol ghr-page ICD-10-CM N05.6
CFI https://ghr.nlm.nih.gov/gene/CFI db key
related-gene gene-symbol ghr-page ICD-10-CM N06.6
CR1 https://ghr.nlm.nih.gov/gene/CR1 db key
ICD-10-CM N07.6
db key
MeSH D015432
db key
OMIM 609814
db key
OMIM 614809
db key
Orphanet 329931
db key
Orphanet 93571
db key
SNOMED CT 197599000
db key
related-gene-list SNOMED CT 59479006
Caffey disease https://ghr.nlm.nih.gov/condition/caffey-disease Caffey disease has been estimated to occur in approximately 3 per 1,000 html:p autosomal dominant COL1A1 https://ghr.nlm.nih.gov/gene/COL1A1 Caffey-Silverman syndrome db key 2013-04 2017-12-29
infants worldwide. A few hundred cases have been described in the medical de Toni-Caffey disease GTR C0020497
literature. Researchers believe this condition is probably underdiagnosed infantile cortical hyperostosis db key
because it usually goes away by itself in early childhood. GeneReviews caffey
db key
MeSH D006958
db key
OMIM 114000
db key
Orphanet 1310
db key
html:p SNOMED CT 24752008
html:p
html:p
related-gene-list
Campomelic dysplasia https://ghr.nlm.nih.gov/condition/campomelic-dysplasia The prevalence of campomelic dysplasia is uncertain; estimates range from 1 html:p autosomal dominant SOX9 https://ghr.nlm.nih.gov/gene/SOX9 campomelic dwarfism db key 2014-06 2017-12-29
in 40,000 to 200,000 people. campomelic syndrome GTR C1861922
camptomelic dysplasia db key
html:p GeneReviews campo-dysp
db key
MeSH D055036
db key
OMIM 114290
db key
Orphanet 140
db key
SNOMED CT 74928006
html:p
html:p
html:p
related-gene-list
Camurati-Engelmann disease https://ghr.nlm.nih.gov/condition/camurati-engelmann-disease The prevalence of Camurati-Engelmann disease is unknown. More than 300 html:p autosomal dominant TGFB1 https://ghr.nlm.nih.gov/gene/TGFB1 Camurati-Engelmann syndrome db key 2017-11 2017-12-29
cases have been reported worldwide. CED GTR C0011989
html:p diaphyseal dysplasia db key
diaphyseal hyperostosis GeneReviews ced
diaphyseal osteosclerosis db key
Engelmann disease ICD-10-CM Q78.3
PDD db key
progressive diaphyseal dysplasia MeSH D003966
db key
OMIM 131300
db key
html:p OMIM 606631
db key
Orphanet 1328
db key
SNOMED CT 34643004
html:p
html:p
related-gene-list
Canavan disease https://ghr.nlm.nih.gov/condition/canavan-disease While this condition occurs in people of all ethnic backgrounds, it is most html:p autosomal recessive ASPA https://ghr.nlm.nih.gov/gene/ASPA ACY2 deficiency db key 2015-04 2017-12-29
common in people of Ashkenazi (eastern and central European) Jewish heritage. aminoacylase 2 deficiency GTR C0206307
Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Aspa deficiency db key
Ashkenazi Jewish population. The incidence in other populations is unknown. aspartoacylase deficiency GTR CN068568
Canavan's disease db key
html:p GeneReviews canavan
db key
ICD-10-CM E75.29
db key
MeSH D017825
db key
OMIM 271900
db key
html:p Orphanet 141
db key
Orphanet 314911
db key
html:p Orphanet 314918
db key
SNOMED CT 80544005
related-gene-list
Cantú syndrome https://ghr.nlm.nih.gov/condition/cantu-syndrome Cantú syndrome is a rare condition. About three dozen affected individuals html:p autosomal dominant ABCC9 https://ghr.nlm.nih.gov/gene/ABCC9 Cantu syndrome db key 2013-01 2017-12-29
have been reported in the medical literature. hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome GTR C0795905
hypertrichotic osteochondrodysplasia db key
GeneReviews cantu
html:p db key
MeSH D010009
db key
OMIM 239850
db key
Orphanet 1517
db key
SNOMED CT 239087008
html:p
html:p
related-gene-list
Cap myopathy https://ghr.nlm.nih.gov/condition/cap-myopathy Cap myopathy is a rare disorder that has been identified in only a small html:p autosomal dominant ACTA1 https://ghr.nlm.nih.gov/gene/ACTA1 cap disease db key 2012-04 2017-12-29
number of individuals. Its exact prevalence is unknown. memo related-gene gene-symbol ghr-page congenital myopathy with caps GTR C2750413
not inherited TPM2 https://ghr.nlm.nih.gov/gene/TPM2 db key
related-gene gene-symbol ghr-page GTR C2750414
TPM3 https://ghr.nlm.nih.gov/gene/TPM3 db key
MeSH D020914
html:p db key
OMIM 609284
db key
OMIM 609285
db key
Orphanet 171881
html:p db key
SNOMED CT 703532002
html:p
related-gene-list
Capillary malformation-arteriovenous malformation syndrome https://ghr.nlm.nih.gov/condition/capillary-malformation-arteriovenous-malformat CM-AVM is thought to occur in at least 1 in 100,000 people of northern html:p autosomal dominant RASA1 https://ghr.nlm.nih.gov/gene/RASA1 capillary malformation-arteriovenous malformation db key 2011-08 2017-12-29
ion-syndrome European origin. The prevalence of the condition in other populations is CM-AVM GTR C1842180
unknown. db key
GeneReviews rasa1-rel-dis
db key
MeSH D054079
html:p db key
OMIM 608354
db key
Orphanet 137667
db key
SNOMED CT 703533007
html:p
html:p
related-gene-list
Carbamoyl phosphate synthetase I deficiency https://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency Carbamoyl phosphate synthetase I deficiency is a rare disorder; its overall html:p autosomal recessive CPS1 https://ghr.nlm.nih.gov/gene/CPS1 carbamoyl-phosphate synthase I deficiency disease db key 2013-02 2017-12-29
incidence is unknown. Researchers in Japan have estimated that it occurs in 1 carbamyl-phosphate synthetase I deficiency disease GTR C0751753
in 800,000 newborns in that country. congenital hyperammonemia, type I db key
GeneReviews ucd-overview
html:p db key
ICD-10-CM E72.29
db key
MeSH D020165
db key
OMIM 237300
db key
Orphanet 147
html:p db key
SNOMED CT 62522004
related-gene-list
Carbonic anhydrase VA deficiency https://ghr.nlm.nih.gov/condition/carbonic-anhydrase-va-deficiency The prevalence of carbonic anhydrase VA deficiency is unknown. Only a small html:p autosomal recessive CA5A https://ghr.nlm.nih.gov/gene/CA5A CA-VA deficiency db key 2016-09 2017-12-29
number of affected individuals have been described in the medical literature. CA5AD GTR C3810404
However, the disorder may be underdiagnosed because the metabolic crisis often hyperammonemia due to carbonic anhydrase VA deficiency db key
does not recur after the first episode; researchers suspect that some babies hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency GeneReviews ca5a-def
diagnosed with transient hyperammonemia may actually have carbonic anhydrase VA mitochondrial carbonic anhydrase va deficiency db key
deficiency. MeSH D020739
html:p db key
MeSH D022124
db key
OMIM 615751
db key
Orphanet 401948
html:p
html:p
related-gene-list
Cardiofaciocutaneous syndrome https://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome Cardiofaciocutaneous syndrome is a very rare condition whose incidence is html:p autosomal dominant BRAF https://ghr.nlm.nih.gov/gene/BRAF cardio-facio-cutaneous syndrome db key 2012-05 2017-12-29
unknown. Researchers estimate that 200 to 300 people worldwide have this related-gene gene-symbol ghr-page CFC syndrome GTR C1275081
condition. KRAS https://ghr.nlm.nih.gov/gene/KRAS db key
related-gene gene-symbol ghr-page GeneReviews cfc
html:p MAP2K1 https://ghr.nlm.nih.gov/gene/MAP2K1 db key
related-gene gene-symbol ghr-page MeSH D004476
MAP2K2 https://ghr.nlm.nih.gov/gene/MAP2K2 db key
MeSH D006330
db key
OMIM 115150
html:p db key
Orphanet 1340
db key
SNOMED CT 403770008
html:p
html:p
html:p
related-gene-list
Carney complex https://ghr.nlm.nih.gov/condition/carney-complex Carney complex is a rare disorder; fewer than 750 affected individuals have html:p autosomal dominant PRKAR1A https://ghr.nlm.nih.gov/gene/PRKAR1A Carney Syndrome db key 2010-01 2017-12-29
been identified. LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome GTR C0406810
NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome db key
GTR C1854540
html:p db key
GTR C2607929
db key
GeneReviews carney
db key
MeSH D056733
db key
OMIM 160980
html:p db key
Orphanet 1359
db key
SNOMED CT 239132009
html:p
html:p
html:p
related-gene-list
Carnitine-acylcarnitine translocase deficiency https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency CACT deficiency is very rare; at least 30 cases have been reported. html:p autosomal recessive SLC25A20 https://ghr.nlm.nih.gov/gene/SLC25A20 CACT deficiency db key 2015-11 2017-12-29
carnitine-acylcarnitine carrier deficiency GTR C0342791
carnitine acylcarnitine translocase deficiency db key
MeSH D008052
db key
OMIM 212138
db key
Orphanet 159
db key
SNOMED CT 238003000
html:p
related-gene-list
Carnitine palmitoyltransferase I deficiency https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency CPT I deficiency is a rare disorder; fewer than 50 affected individuals html:p autosomal recessive CPT1A https://ghr.nlm.nih.gov/gene/CPT1A carnitine palmitoyltransferase IA deficiency db key 2014-04 2017-12-29
have been identified. This disorder may be more common in the Hutterite and CPT 1A deficiency GTR C0342789
Inuit populations. CPT deficiency, hepatic, type I db key
CPT I deficiency GeneReviews cpt1a
html:p liver form of carnitine palmitoyltransferase deficiency db key
MeSH D008052
db key
OMIM 255120
db key
Orphanet 156
db key
SNOMED CT 238001003
html:p
related-gene-list
Carnitine palmitoyltransferase II deficiency https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency CPT II deficiency is a rare disorder. The lethal neonatal form has been html:p autosomal recessive CPT2 https://ghr.nlm.nih.gov/gene/CPT2 carnitine palmitoyltransferase 2 deficiency db key 2014-06 2017-12-29
described in at least 18 families, while the severe infantile CPT II deficiency GTR C0342790
hepatocardiomuscular form has been identified in approximately 30 families. The CPT2 deficiency db key
myopathic form occurs most frequently, with more than 300 reported cases. GTR C1833508
db key
html:p GTR C1833511
db key
GTR C1833518
db key
GeneReviews cpt2
db key
ICD-10-CM E71.314
db key
MeSH D008052
html:p db key
OMIM 255110
db key
OMIM 600649
db key
OMIM 608836
db key
Orphanet 157
html:p db key
SNOMED CT 238002005
related-gene-list
Carpenter syndrome https://ghr.nlm.nih.gov/condition/carpenter-syndrome Carpenter syndrome is thought to be a rare condition; approximately 70 html:p autosomal recessive MEGF8 https://ghr.nlm.nih.gov/gene/MEGF8 ACPS II db key 2013-05 2017-12-29
cases have been described in the scientific literature. related-gene gene-symbol ghr-page acrocephalopolysyndactyly 2 GTR C1275078
RAB23 https://ghr.nlm.nih.gov/gene/RAB23 acrocephalopolysyndactyly type II db key
html:p acrocephalosyndactyly, type II GTR C3554247
type II acrocephalosyndactyly db key
MeSH D000168
db key
OMIM 201000
db key
OMIM 614976
db key
Orphanet 65759
db key
SNOMED CT 205813009
db key
SNOMED CT 403767009
html:p
html:p
html:p
html:p
html:p
html:p
related-gene-list
Cartilage-hair hypoplasia https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia Cartilage-hair hypoplasia occurs most often in the Old Order Amish html:p autosomal recessive RMRP https://ghr.nlm.nih.gov/gene/RMRP cartilage-hair syndrome db key 2015-03 2017-12-29
population, where it affects about 1 in 1,300 newborns. In people of Finnish CHH GTR C0220748
descent, its incidence is approximately 1 in 20,000. Outside of these McKusick's metaphyseal chondrodysplasia syndrome db key
populations, the condition is rare, and its specific incidence is not known. It metaphyseal chondrodysplasia, McKusick type GeneReviews chh
has been reported in individuals of European and Japanese descent. html:p metaphyseal chondrodysplasia, recessive type db key
MeSH D004392
db key
OMIM 250250
db key
Orphanet 175
html:p db key
SNOMED CT 7720002
html:p
html:p
related-gene-list
CASK-related disability https://ghr.nlm.nih.gov/condition/cask-related--disability The prevalence of CASK-related disability is unknown. More html:p xd X-linked dominant CASK synonym db-key db key 2014-03 2017-12-29
than 50 females with MICPCH have been described in the medical literature, while synonym GTR C2677903
only a few affected males have been described.By contrast, more than 20 males db-key db key
but only a few females have been diagnosed with the milder form of the disorder, GeneReviews cask-dis
XL-ID with or without nystagmus. This form of the disorder may go unrecognized db-key db key
in mildly affected females. MeSH D008607
html:p db-key db key
OMIM 300422
db-key db key
OMIM 300749
db-key db key
Orphanet 163937
db-key db key
SNOMED CT 703389002
html:p
html:p
html:p
html:p
related-gene-list
Catecholaminergic polymorphic ventricular tachycardia https://ghr.nlm.nih.gov/condition/catecholaminergic-polymorphic-ventricular-tach The prevalence of CPVT is estimated to be about 1 in 10,000 people. html:p autosomal dominant CASQ2 https://ghr.nlm.nih.gov/gene/CASQ2 bidirectional tachycardia induced by catecholamines db key 2009-12 2017-12-29
ycardia However, the true prevalence of this condition is unknown. memo related-gene gene-symbol ghr-page Catecholamine-induced polymorphic ventricular tachycardia GTR C1631597
autosomal recessive RYR2 https://ghr.nlm.nih.gov/gene/RYR2 CPVT db key
familial polymorphic ventricular tachycardia GTR C2677794
FPVT db key
GeneReviews cvt
db key
html:p ICD-10-CM I47.2
db key
MeSH D017180
db key
OMIM 604772
db key
OMIM 611938
db key
Orphanet 3286
db key
inheritance-pattern-list related-gene-list SNOMED CT 419671004
CATSPER1-related nonsyndromic male infertility https://ghr.nlm.nih.gov/condition/catsper1-related-nonsyndromic-male-infertility The prevalence of CATSPER1-related nonsyndromic male infertility is html:p ar autosomal recessive ghr-page CATSPER-related nonsyndromic male infertility db-key db key 2010-04 2017-12-29
unknown. https://ghr.nlm.nih.gov/gene/CATSPER1 CATSPER1-related male infertility GTR C2751811
db-key db key
GeneReviews catsper-mi
db-key db key
MeSH D007248
db-key db key
OMIM 612997
db-key db key
synonym-list db-key-list SNOMED CT 236792002
Caudal regression syndrome https://ghr.nlm.nih.gov/condition/caudal-regression-syndrome Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 html:p pattern unknown synonym caudal dysplasia sequence key 2017-12-29
newborns. This condition is much more common in infants born to mothers with synonym caudal regression sequence db-key C0300948
diabetes when it affects an estimated 1 in 350 newborns. synonym sacral agenesis key
html:p synonym sacral defect with anterior meningocele db-key D013118
key
db-key 600145
key
db-key 3027
key
db-key 205425003
key
db-key 253189008
html:p key
db-key 253191000
key
8301004
html:p
html:p
inheritance-pattern-list
CAV3-related distal myopathy https://ghr.nlm.nih.gov/condition/cav3-related-distal-myopathy The prevalence of CAV3-related distal myopathy is unknown. Only a few html:p ad autosomal dominant gene-symbol synonym distal myopathy, Tateyama type db-key db key 2014-05 2017-12-29
affected individuals have been described in the medical literature. CAV3 synonym MPDT GTR C3280443
db-key db key
GeneReviews cav
db-key db key
MeSH D049310
db-key db key
OMIM 614321
-related distal myopathy. The muscles closer to the center of the body (proximal db-key db key
muscles) such as the thighs and upper arms are normal in this condition. SNOMED CT 711265009
related-gene-list
CDKL5 deficiency disorder https://ghr.nlm.nih.gov/condition/cdkl5-deficiency-disorder CDKL5 deficiency disorder appears to be a rare condition. More than 1,000 html:p X-linked dominant CDKL5 https://ghr.nlm.nih.gov/gene/CDKL5 CDKL5 deficiency db key 2017-11 2017-12-29
cases have been reported worldwide. CDKL5 disorder GTR C1839333
html:p CDKL5 encephalopathy db key
CDKL5-related MeSH D013036
CDKL5-related epileptic encephalopathy db key
early infantile epileptic encephalopathy 2 Orphanet 3095
db key
html:p SNOMED CT 718393002
html:p
html:p
html:p
related-gene-list
Celiac disease https://ghr.nlm.nih.gov/condition/celiac-disease Celiac disease is a common disorder. Its prevalence has been estimated at html:p pattern unknown HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 celiac sprue db key 2015-09 2017-12-29
about 1 in 100 people worldwide. related-gene gene-symbol ghr-page gluten enteropathy GTR C0007570
HLA-DQB1 https://ghr.nlm.nih.gov/gene/HLA-DQB1 sprue db key
GeneReviews celiac
db key
ICD-10-CM K90.0
db key
html:p MeSH D002446
db key
OMIM 212750
db key
Orphanet 555
db key
SNOMED CT 396331005
html:p
html:p
html:p
html:p
related-gene-list
Central core disease https://ghr.nlm.nih.gov/condition/central-core-disease Central core disease is probably an uncommon condition, although its html:p autosomal dominant RYR1 https://ghr.nlm.nih.gov/gene/RYR1 CCD db key 2007-10 2017-12-29
incidence is unknown. memo CCO GTR C0751951
autosomal recessive Central Core Myopathy db key
html:p Myopathy, Central Core GeneReviews cco
Shy-Magee Syndrome db key
MeSH D020512
db key
OMIM 117000
db key
Orphanet 597
db key
SNOMED CT 43152001
html:p
html:p
related-gene-list
Central precocious puberty https://ghr.nlm.nih.gov/condition/central-precocious-puberty Central precocious puberty is estimated to affect 1 in 5,000 to 10,000 html:p autosomal dominant KISS1 https://ghr.nlm.nih.gov/gene/KISS1 CPP db key 2016-10 2017-12-29
girls. The condition is less common in boys, although the prevalence is unknown. related-gene gene-symbol ghr-page gonadotropin-dependent precocious puberty GTR C0342543
KISS1R https://ghr.nlm.nih.gov/gene/KISS1R db key
related-gene gene-symbol ghr-page GTR C3809199
MKRN3 https://ghr.nlm.nih.gov/gene/MKRN3 db key
ICD-10-CM E30.1
db key
MeSH D011629
db key
OMIM 176400
db key
OMIM 615346
db key
Orphanet 759
db key
related-gene-list SNOMED CT 237816004
Centronuclear myopathy https://ghr.nlm.nih.gov/condition/centronuclear-myopathy Centronuclear myopathy is a rare condition; its exact prevalence is html:p autosomal dominant BIN1 https://ghr.nlm.nih.gov/gene/BIN1 CNM db key 2015-11 2017-12-29
unknown. memo related-gene gene-symbol ghr-page myopathy, centronuclear GTR C0410204
autosomal recessive CCDC78 https://ghr.nlm.nih.gov/gene/CCDC78 db key
related-gene gene-symbol ghr-page GTR C1834558
html:p DNM2 https://ghr.nlm.nih.gov/gene/DNM2 db key
related-gene gene-symbol ghr-page GTR C3553709
RYR1 https://ghr.nlm.nih.gov/gene/RYR1 db key
related-gene gene-symbol ghr-page GTR C4014814
SPEG https://ghr.nlm.nih.gov/gene/SPEG db key
related-gene gene-symbol ghr-page GTR CN221282
html:p TTN https://ghr.nlm.nih.gov/gene/TTN db key
ICD-10-CM G71.2
db key
MeSH D020914
db key
OMIM 160150
db key
OMIM 255200
db key
html:p OMIM 614807
db key
OMIM 615959
db key
Orphanet 595
db key
Orphanet 169186
db key
Orphanet 169189
db key
SNOMED CT 240081004
db key
related-gene-list SNOMED CT 716696006
Cerebral autosomal dominant arteriopathy with subcortical infarcts and https://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with- CADASIL is likely a rare condition; however, its prevalence is unknown. html:p autosomal dominant NOTCH3 https://ghr.nlm.nih.gov/gene/NOTCH3 CADASIL db key 2013-05 2017-12-29
leukoencephalopathy subcortical-infarcts-and-leukoencephalopathy cerebral arteriopathy with subcortical infarcts and leukoencephalopathy GTR C1272305
familial vascular leukoencephalopathy db key
hereditary dementia, multi-infarct type GeneReviews cadasil
db key
MeSH D046589
db key
OMIM 125310
html:p db key
Orphanet 136
db key
SNOMED CT 390936003
html:p
html:p
html:p
related-gene-list
Cerebral autosomal recessive arteriopathy with subcortical infarcts and https://ghr.nlm.nih.gov/condition/cerebral-autosomal-recessive-arteriopathy-with CARASIL appears to be a rare condition. It has been identified in about 50 html:p autosomal recessive HTRA1 https://ghr.nlm.nih.gov/gene/HTRA1 CARASIL db key 2011-04 2017-12-29
leukoencephalopathy -subcortical-infarcts-and-leukoencephalopathy people, primarily in Japan and China. familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia GTR C1838577
and lumbago without arterial hypertension db key
html:p Maeda syndrome GeneReviews carasil
Nemoto disease db key
MeSH D002539
db key
OMIM 600142
db key
Orphanet 199354
html:p db key
SNOMED CT 703219008
html:p
related-gene-list
Cerebral cavernous malformation https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation Cerebral cavernous malformations affect about 0.5 percent of the population html:p autosomal dominant CCM2 https://ghr.nlm.nih.gov/gene/CCM2 CCM db key 2012-11 2017-12-29
worldwide. related-gene gene-symbol ghr-page central nervous system cavernous hemangioma GTR C1366911
KRIT1 https://ghr.nlm.nih.gov/gene/KRIT1 cerebral cavernous hemangioma db key
related-gene gene-symbol ghr-page familial cavernous hemangioma GTR C1861784
PDCD10 https://ghr.nlm.nih.gov/gene/PDCD10 familial cavernous malformation db key
familial cerebral cavernous angioma GTR C1864040
familial cerebral cavernous malformation db key
intracerebral cavernous hemangioma GTR C1864041
html:p db key
GeneReviews ccm
db key
MeSH D020786
db key
OMIM 116860
db key
html:p Orphanet 164
db key
SNOMED CT 444869007
related-gene-list
Cerebral folate transport deficiency https://ghr.nlm.nih.gov/condition/cerebral-folate-transport-deficiency The prevalence of cerebral folate transport deficiency is unknown. Fewer html:p autosomal recessive FOLR1 https://ghr.nlm.nih.gov/gene/FOLR1 cerebral folate deficiency db key 2014-09 2017-12-29
than 20 affected individuals have been described in the scientific literature. FOLR1 deficiency GTR C2751584
neurodegeneration due to cerebral folate transport deficiency db key
MeSH D019150
db key
OMIM 613068
db key
Orphanet 217382
db key
SNOMED CT 711403001
related-gene-list
Cerebrotendinous xanthomatosis https://ghr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis The incidence of cerebrotendinous xanthomatosis is estimated to be 1 per html:p autosomal recessive CYP27A1 https://ghr.nlm.nih.gov/gene/CYP27A1 cerebral cholesterinosis db key 2016-09 2017-12-29
million individuals worldwide. This condition is more common in the Moroccan cerebrotendinous cholesterinosis GTR C0238052
Jewish population with an incidence of 1 in 108 individuals. cholestanol storage disease db key
cholestanolosis GeneReviews ctx
CTX db key
Van Bogaert-Scherer-Epstein disease ICD-10-CM E75.5
db key
MeSH D019294
html:p db key
OMIM 213700
db key
Orphanet 909
db key
SNOMED CT 63246000
html:p
html:p
related-gene-list
Chanarin-Dorfman syndrome https://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome Chanarin-Dorfman syndrome is a rare condition; its incidence is unknown. html:p autosomal recessive ABHD5 https://ghr.nlm.nih.gov/gene/ABHD5 CDS db key 2008-11 2017-12-29
Chanarin-Dorfman disease GTR C0268238
Ichthyotic neutral lipid storage disease db key
neutral lipid storage disease with ichthyosis MeSH D008052
Triglyceride storage disease with ichthyosis db key
triglyceride storage disease with impaired long-chain fatty acid oxidation OMIM 275630
db key
Orphanet 165
db key
html:p SNOMED CT 19604005
related-gene-list
Char syndrome https://ghr.nlm.nih.gov/condition/char-syndrome Char syndrome is rare, although its exact incidence is unknown. Only a few html:p autosomal dominant TFAP2B https://ghr.nlm.nih.gov/gene/TFAP2B Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits db key 2008-06 2017-12-29
families with this condition have been identified worldwide. GTR C1868570
db key
GeneReviews char
html:p db key
MeSH D000015
db key
MeSH D004374
db key
OMIM 169100
db key
html:p Orphanet 46627
db key
SNOMED CT 703534001
html:p
related-gene-list
Charcot-Marie-Tooth disease https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease Charcot-Marie-Tooth disease is the most common inherited disorder that html:p autosomal dominant AARS https://ghr.nlm.nih.gov/gene/AARS Charcot-Marie-Tooth hereditary neuropathy db key 2015-12 2017-12-29
involves the peripheral nerves, affecting an estimated 150,000 people in the memo related-gene gene-symbol ghr-page Charcot-Marie-Tooth syndrome GTR C0007959
United States. It occurs in populations worldwide with a prevalence of about 1 autosomal recessive AIFM1 https://ghr.nlm.nih.gov/gene/AIFM1 CMT db key
in 2,500 individuals. memo related-gene gene-symbol ghr-page hereditary motor and sensory neuropathy GTR C0011195
X-linked dominant BSCL2 https://ghr.nlm.nih.gov/gene/BSCL2 HMSN db key
html:p related-gene gene-symbol ghr-page peroneal muscular atrophy GTR C0205713
DHTKD1 https://ghr.nlm.nih.gov/gene/DHTKD1 PMA db key
related-gene gene-symbol ghr-page GTR C0270911
DNM2 https://ghr.nlm.nih.gov/gene/DNM2 db key
related-gene gene-symbol ghr-page GTR C0270912
DYNC1H1 https://ghr.nlm.nih.gov/gene/DYNC1H1 db key
related-gene gene-symbol ghr-page GTR C0270913
EGR2 https://ghr.nlm.nih.gov/gene/EGR2 db key
html:p related-gene gene-symbol ghr-page GTR C0393808
FGD4 https://ghr.nlm.nih.gov/gene/FGD4 db key
related-gene gene-symbol ghr-page GTR C0393818
FIG4 https://ghr.nlm.nih.gov/gene/FIG4 db key
related-gene gene-symbol ghr-page GTR C0751036
GARS https://ghr.nlm.nih.gov/gene/GARS db key
html:p related-gene gene-symbol ghr-page GTR C1832274
GDAP1 https://ghr.nlm.nih.gov/gene/GDAP1 db key
related-gene gene-symbol ghr-page GTR C1832334
GJB1 https://ghr.nlm.nih.gov/gene/GJB1 db key
related-gene gene-symbol ghr-page GTR C1832399
HSPB1 https://ghr.nlm.nih.gov/gene/HSPB1 db key
related-gene gene-symbol ghr-page GTR C1833219
HSPB8 https://ghr.nlm.nih.gov/gene/HSPB8 db key
html:p related-gene gene-symbol ghr-page GTR C1836336
INF2 https://ghr.nlm.nih.gov/gene/INF2 db key
related-gene gene-symbol ghr-page GTR C1836485
KARS https://ghr.nlm.nih.gov/gene/KARS db key
related-gene gene-symbol ghr-page GTR C1837552
KIF1B https://ghr.nlm.nih.gov/gene/KIF1B db key
related-gene gene-symbol ghr-page GTR C1839566
LITAF https://ghr.nlm.nih.gov/gene/LITAF db key
related-gene gene-symbol ghr-page GTR C1842197
LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
related-gene gene-symbol ghr-page GTR C1842237
LRSAM1 https://ghr.nlm.nih.gov/gene/LRSAM1 db key
related-gene gene-symbol ghr-page GTR C1842983
MED25 https://ghr.nlm.nih.gov/gene/MED25 db key
related-gene gene-symbol ghr-page GTR C1843075
html:p MFN2 https://ghr.nlm.nih.gov/gene/MFN2 db key
related-gene gene-symbol ghr-page GTR C1843153
MPZ https://ghr.nlm.nih.gov/gene/MPZ db key
related-gene gene-symbol ghr-page GTR C1843164
MTMR2 https://ghr.nlm.nih.gov/gene/MTMR2 db key
related-gene gene-symbol ghr-page GTR C1843183
NDRG1 https://ghr.nlm.nih.gov/gene/NDRG1 db key
related-gene gene-symbol ghr-page GTR C1843225
NEFL https://ghr.nlm.nih.gov/gene/NEFL db key
related-gene gene-symbol ghr-page GTR C1843247
PMP22 https://ghr.nlm.nih.gov/gene/PMP22 db key
related-gene gene-symbol ghr-page GTR C1843251
PRPS1 https://ghr.nlm.nih.gov/gene/PRPS1 db key
related-gene gene-symbol ghr-page GTR C1847823
PRX https://ghr.nlm.nih.gov/gene/PRX db key
related-gene gene-symbol ghr-page GTR C1847902
RAB7A https://ghr.nlm.nih.gov/gene/RAB7A db key
related-gene gene-symbol ghr-page GTR C1854150
SBF2 https://ghr.nlm.nih.gov/gene/SBF2 db key
related-gene gene-symbol ghr-page GTR C1854154
SH3TC2 https://ghr.nlm.nih.gov/gene/SH3TC2 db key
related-gene gene-symbol ghr-page GTR C1858278
TRPV4 https://ghr.nlm.nih.gov/gene/TRPV4 db key
related-gene gene-symbol ghr-page GTR C1859198
YARS https://ghr.nlm.nih.gov/gene/YARS db key
GTR C1861669
db key
GTR C1861678
db key
GTR C1866636
db key
GTR C1970011
db key
GTR C2079540
db key
GTR C2750090
db key
GTR C3280220
db key
GTR C3280797
db key
GTR C3280845
db key
GeneReviews cmt
db key
GeneReviews cmt-4a
db key
GeneReviews cmt-dib
db key
GeneReviews cmt1
db key
GeneReviews cmt2
db key
GeneReviews cmt2a
db key
GeneReviews cmt2c
db key
GeneReviews cmt2d
db key
GeneReviews cmt2e
db key
GeneReviews cmt4
db key
GeneReviews cmt4c
db key
GeneReviews cmtx
db key
GeneReviews cmtx5
db key
ICD-10-CM G60.0
db key
MeSH D002607
db key
OMIM 118200
db key
OMIM 118210
db key
OMIM 118220
db key
OMIM 118300
db key
OMIM 145900
db key
OMIM 180800
db key
OMIM 214400
db key
OMIM 302800
db key
OMIM 311070
db key
OMIM 600882
db key
OMIM 601098
db key
OMIM 601382
db key
OMIM 601455
db key
OMIM 601472
db key
OMIM 601596
db key
OMIM 604563
db key
OMIM 605253
db key
OMIM 605588
db key
OMIM 605589
db key
OMIM 606071
db key
OMIM 606482
db key
OMIM 606595
db key
OMIM 607677
db key
OMIM 607678
db key
OMIM 607684
db key
OMIM 607706
db key
OMIM 607734
db key
OMIM 607736
db key
OMIM 607791
db key
OMIM 607831
db key
OMIM 608323
db key
OMIM 608340
db key
OMIM 608673
db key
OMIM 609260
db key
OMIM 609311
db key
OMIM 611228
db key
OMIM 613287
db key
OMIM 614228
db key
OMIM 614436
db key
OMIM 614455
db key
Orphanet 166
db key
Orphanet 101081
db key
Orphanet 101082
db key
Orphanet 101083
db key
Orphanet 101084
db key
Orphanet 101085
db key
Orphanet 101097
db key
Orphanet 101101
db key
Orphanet 101102
db key
Orphanet 139515
db key
Orphanet 228174
db key
Orphanet 64746
db key
Orphanet 64747
db key
Orphanet 64748
db key
Orphanet 64748
db key
Orphanet 64749
db key
Orphanet 65753
db key
Orphanet 90658
db key
Orphanet 98856
db key
Orphanet 99937
db key
Orphanet 99938
db key
Orphanet 99939
db key
Orphanet 99940
db key
Orphanet 99942
db key
Orphanet 99945
db key
Orphanet 99948
db key
Orphanet 99949
db key
Orphanet 99950
db key
Orphanet 99951
db key
Orphanet 99952
db key
Orphanet 99954
db key
Orphanet 99955
db key
Orphanet 99956
db key
SNOMED CT 398100001
db key
related-gene-list SNOMED CT 45853006
CHARGE syndrome https://ghr.nlm.nih.gov/condition/charge-syndrome CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 newborns. html:p autosomal dominant CHD7 https://ghr.nlm.nih.gov/gene/CHD7 CHARGE association db key 2017-02 2017-12-29
Hall-Hittner syndrome GTR C0265354
db key
GeneReviews charge
db key
MeSH D058747
db key
html:p OMIM 214800
db key
Orphanet 138
db key
SNOMED CT 47535005
html:p
html:p
inheritance-pattern-list
CHD2 myoclonic encephalopathy https://ghr.nlm.nih.gov/condition/chd2-myoclonic-encephalopathy The prevalence of CHD2 myoclonic encephalopathy is unknown; at least 32 html:p ad related-gene ghr-page synonym CHD2 encephalopathy db-key db key 2016-12 2017-12-29
cases have been described in the scientific literature. https://ghr.nlm.nih.gov/gene/CHD2 synonym CHD2-related neurodevelopmental disorders GTR C3809278
db-key db key
GeneReviews chd2-dis
db-key db key
MeSH D004831
db-key db key
OMIM 615369
db-key db key
SNOMED CT 192845009
myoclonic encephalopathy experience a type of seizure called
atonic-myoclonic-absence seizure, which begins with a drop of the head, followed
by loss of consciousness, then rigid movements of the arms. can
worsen, causing prolonged episodes of seizure activity that last several
html:i myoclonic encephalopathy are called refractory because they usually do not
CHD2 respond to therapy with anti-epileptic medications.
html:p
related-gene-list
Chediak-Higashi syndrome https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome Chediak-Higashi syndrome is a rare disorder. About 200 cases of the html:p autosomal recessive LYST https://ghr.nlm.nih.gov/gene/LYST Chediak-Steinbrinck-Higashi syndrome db key 2014-01 2017-12-29
condition have been reported worldwide. CHS GTR C0007965
oculocutaneous albinism with leukocyte defect db key
GeneReviews chediak-higashi
db key
ICD-10-CM E70.330
html:p db key
MeSH D002609
db key
OMIM 214500
db key
Orphanet 167
html:p db key
SNOMED CT 111396008
html:p
html:p
related-gene-list
Cherubism https://ghr.nlm.nih.gov/condition/cherubism The incidence of cherubism is unknown. At least 250 cases have been html:p autosomal dominant SH3BP2 https://ghr.nlm.nih.gov/gene/SH3BP2 Familial benign giant-cell tumor of the jaw db key 2007-04 2017-12-29
reported worldwide. Familial fibrous dysplasia of jaw GTR C0008029
Familial multilocular cystic disease of the jaws db key
GeneReviews cherubism
db key
MeSH D002636
db key
OMIM 118400
db key
Orphanet 184
db key
html:p SNOMED CT 76098004
related-gene-list
Childhood myocerebrohepatopathy spectrum https://ghr.nlm.nih.gov/condition/childhood-myocerebrohepatopathy-spectrum The prevalence of childhood myocerebrohepatopathy spectrum is unknown. html:p ar autosomal recessive POLG synonym db-key db key 2011-06 2017-12-29
GTR C0205710
db-key db key
GeneReviews alpers
db-key db key
MeSH D028361
html:p db-key db key
SNOMED CT 702366001
html:p
related-gene-list
CHMP2B-related frontotemporal dementia https://ghr.nlm.nih.gov/condition/chmp2b-related-frontotemporal-dementia CHMP2B-related frontotemporal dementia has been reported in one large html:p ad autosomal dominant CHMP2B synonym db-key db key 2010-08 2017-12-29
family in Denmark and a few unrelated individuals from other countries. This synonym GTR C1833296
disease appears to be a rare form of frontotemporal dementia. synonym db-key db key
synonym GeneReviews ftd-chmp2b
html:p synonym db-key db key
MeSH D057180
db-key db key
OMIM 600795
db-key db key
Orphanet 282
db-key db key
html:p SNOMED CT 702393003
html:p
related-gene-list
Cholangiocarcinoma https://ghr.nlm.nih.gov/condition/cholangiocarcinoma Cholangiocarcinoma affects 2,000 to 3,000 people each year in the United html:p not inherited ARID1A https://ghr.nlm.nih.gov/gene/ARID1A CC db key 2016-08 2017-12-29
States. This type of cancer occurs much more frequently in Southeast Asian memo related-gene gene-symbol ghr-page cholangiocarcinoma of biliary tract GTR C3810156
countries such as Thailand, where it is related to infection with a parasite pattern unknown BAP1 https://ghr.nlm.nih.gov/gene/BAP1 cholangiocellular carcinoma db key
that is common there. For unknown reasons, cholangiocarcinoma occurs slightly related-gene gene-symbol ghr-page extrahepatic cholangiocarcinoma ICD-10-CM C22.1
more often in men than in women. BRAF https://ghr.nlm.nih.gov/gene/BRAF intrahepatic cholangiocarcinoma db key
html:p related-gene gene-symbol ghr-page MeSH D018281
FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 db key
related-gene gene-symbol ghr-page OMIM 615619
IDH1 https://ghr.nlm.nih.gov/gene/IDH1 db key
related-gene gene-symbol ghr-page Orphanet 70567
IDH2 https://ghr.nlm.nih.gov/gene/IDH2 db key
related-gene gene-symbol ghr-page SNOMED CT 312104005
KMT2C https://ghr.nlm.nih.gov/gene/KMT2C db key
related-gene gene-symbol ghr-page SNOMED CT 70179006
KRAS https://ghr.nlm.nih.gov/gene/KRAS
html:p related-gene gene-symbol ghr-page
PBRM1 https://ghr.nlm.nih.gov/gene/PBRM1
related-gene gene-symbol ghr-page
PEG3 https://ghr.nlm.nih.gov/gene/PEG3
related-gene gene-symbol ghr-page
PTPN3 https://ghr.nlm.nih.gov/gene/PTPN3
related-gene gene-symbol ghr-page
RNF43 https://ghr.nlm.nih.gov/gene/RNF43
related-gene gene-symbol ghr-page
html:p ROBO2 https://ghr.nlm.nih.gov/gene/ROBO2
related-gene gene-symbol ghr-page
SMAD4 https://ghr.nlm.nih.gov/gene/SMAD4
related-gene gene-symbol ghr-page
TERT https://ghr.nlm.nih.gov/gene/TERT
related-gene gene-symbol ghr-page
TP53 https://ghr.nlm.nih.gov/gene/TP53
related-gene-list
CHOPS syndrome https://ghr.nlm.nih.gov/condition/chops-syndrome CHOPS syndrome is a rare disorder whose prevalence is unknown. Only a few html:p autosomal dominant AFF4 https://ghr.nlm.nih.gov/gene/AFF4 cognitive impairment, coarse facies, s, obesity, pulmonary db key 2015-11 2017-12-29
affected individuals have been described in the medical literature. involvement, , and skeletal dysplasia GTR C4085597
db key
MeSH D000015
db key
html:p OMIM 616368
html:p
html:p
html:p
related-gene-list
Chordoma https://ghr.nlm.nih.gov/condition/chordoma Chordomas are rare, occurring in approximately 1 per million individuals html:p autosomal dominant TBXT https://ghr.nlm.nih.gov/gene/TBXT CHDM db key 2015-05 2017-12-29
each year. Chordomas comprise fewer than 1 percent of tumors affecting the brain memo chordocarcinoma GTR C0008487
and spinal cord. not inherited chordoepithelioma db key
notochordal sarcoma ICD-10-CM C41.2
notochordoma db key
html:p MeSH D002817
db key
OMIM 215400
db key
Orphanet 178
db key
SNOMED CT 50007008
html:p
related-gene-list
Chorea-acanthocytosis https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis It is estimated that 500 to 1,000 people worldwide have html:p autosomal recessive VPS13A https://ghr.nlm.nih.gov/gene/VPS13A CHAC db key 2017-10 2017-12-29
chorea-acanthocytosis. choreoacanthocytosis GTR C0393576
neuroacanthocytosis db key
GeneReviews chac
db key
MeSH D054546
html:p db key
OMIM 200150
db key
Orphanet 2388
db key
SNOMED CT 26848004
db key
SNOMED CT 66881004
html:p
html:p
html:p
related-gene-list
Choroideremia https://ghr.nlm.nih.gov/condition/choroideremia The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 html:p X-linked recessive CHM https://ghr.nlm.nih.gov/gene/CHM choroidal sclerosis db key 2013-07 2017-12-29
people. However, it is likely that this condition is underdiagnosed because of progressive tapetochoroidal dystrophy GTR C0008525
its similarities to other eye disorders. Choroideremia is thought to account for TCD db key
approximately 4 percent of all blindness. GeneReviews choroid
db key
ICD-10-CM H31.21
db key
MeSH D015794
db key
OMIM 303100
db key
Orphanet 180
db key
related-gene-list SNOMED CT 75241009
Christianson syndrome https://ghr.nlm.nih.gov/condition/christianson-syndrome Christianson syndrome is a rare condition, although the exact prevalence is html:p X-linked recessive SLC9A6 https://ghr.nlm.nih.gov/gene/SLC9A6 Angelman-like syndrome, X-linked db key 2012-04 2017-12-29
unknown. The condition was first described in a South African family and has deficit, X-linked, South African type GTR C2678194
since been found people in other parts of the world. db key
MeSH D038901
db key
OMIM 300243
db key
html:p Orphanet 85278
db key
SNOMED CT 702354007
related-gene-list
Chronic atrial and intestinal dysrhythmia https://ghr.nlm.nih.gov/condition/chronic-atrial-and-intestinal-dysrhythmia The prevalence of CAID is unknown. At least 17 affected individuals have html:p autosomal recessive SGO1 https://ghr.nlm.nih.gov/gene/SGO1 CAID db key 2015-05 2017-12-29
been described in the medical literature. cohesinopathy affecting heart and gut rhythm GTR C4015474
db key
MeSH D001145
db key
MeSH D007418
db key
html:p OMIM 616201
db key
Orphanet 435988
db key
SNOMED CT 720507006
html:p
related-gene-list
Chronic granulomatous disease https://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease Chronic granulomatous disease is estimated to occur in 1 in 200,000 to html:p autosomal recessive CYBA https://ghr.nlm.nih.gov/gene/CYBA autosomal recessive chronic granulomatous disease db key 2016-01 2017-12-29
250,000 people worldwide. memo related-gene gene-symbol ghr-page CGD GTR C1844376
X-linked recessive CYBB https://ghr.nlm.nih.gov/gene/CYBB granulomatous disease, chronic db key
related-gene gene-symbol ghr-page X-linked chronic granulomatous disease GTR C1856245
NCF1 https://ghr.nlm.nih.gov/gene/NCF1 db key
related-gene gene-symbol ghr-page GTR C1856251
NCF2 https://ghr.nlm.nih.gov/gene/NCF2 db key
related-gene gene-symbol ghr-page GTR C1856255
NCF4 https://ghr.nlm.nih.gov/gene/NCF4 db key
html:p GTR C3151409
db key
GeneReviews cgd
db key
ICD-10-CM D71
db key
MeSH D006105
db key
OMIM 233690
db key
html:p OMIM 233700
db key
OMIM 233710
db key
OMIM 306400
db key
OMIM 613960
db key
Orphanet 379
db key
SNOMED CT 387759001
html:p
html:p
related-gene-list
Chronic myeloid leukemia https://ghr.nlm.nih.gov/condition/chronic-myeloid-leukemia Chronic myeloid leukemia occurs in about 1 in 555 individuals. It accounts html:p not inherited ABL1 https://ghr.nlm.nih.gov/gene/ABL1 CGL db key 2016-09 2017-12-29
for about 10 percent of all blood cell cancers (leukemias). related-gene gene-symbol ghr-page chronic granulocytic leukemia GTR C0023473
BCR https://ghr.nlm.nih.gov/gene/BCR chronic myelocytic leukemia db key
related-chromosome name ghr-page chronic myelogenous leukemia GTR C4016397
9 https://ghr.nlm.nih.gov/chromosome/9 CML db key
related-chromosome name ghr-page ICD-10-CM C92.1
22 https://ghr.nlm.nih.gov/chromosome/22 db key
ICD-10-CM C92.10
db key
ICD-10-CM C92.11
html:p db key
ICD-10-CM C92.12
db key
MeSH D015464
db key
Orphanet 521
html:p db key
Orphanet 98824
db key
SNOMED CT 92818009
inheritance-pattern-list related-gene-list
CHST3-related skeletal dysplasia https://ghr.nlm.nih.gov/condition/chst3-related-skeletal-dysplasia The prevalence of CHST3-related skeletal dysplasia is unknown. More than 30 html:p ar autosomal recessive ghr-page autosomal recessive Larsen syndrome db-key db key 2012-10 2017-12-29
affected individuals have been reported. https://ghr.nlm.nih.gov/gene/CHST3 CDMD GTR C1840471
chondrodysplasia with multiple dislocations db-key db key
humero-spinal dysostosis GeneReviews cd-chst3
SED with luxations, CHST3 type db-key db key
SED, Omani type MeSH D010009
spondyloepiphyseal dysplasia with congenital joint dislocations db-key db key
spondyloepiphyseal dysplasia, Omani type OMIM 143095
html:p db-key db key
Orphanet 263463
db-key db key
SNOMED CT 702400006
related-gene-list
Chylomicron retention disease https://ghr.nlm.nih.gov/condition/chylomicron-retention-disease Chylomicron retention disease is a rare condition with approximately 40 html:p autosomal recessive SAR1B https://ghr.nlm.nih.gov/gene/SAR1B Anderson disease db key 2008-10 2017-12-29
cases described worldwide. Anderson syndrome GTR C0795956
CMRD db key
hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in ICD-10-CM E78.3
intestinal cells db key
lipid transport defect of intestine MeSH D006995
db key
OMIM 246700
db key
html:p Orphanet 71
db key
SNOMED CT 702364003
related-gene-list
Citrullinemia https://ghr.nlm.nih.gov/condition/citrullinemia Type I citrullinemia is the most common form of the disorder, affecting html:p autosomal recessive ASS1 https://ghr.nlm.nih.gov/gene/ASS1 CIT db key 2017-05 2017-12-29
about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in related-gene gene-symbol ghr-page citrullinuria GTR C0175683
the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 SLC25A13 https://ghr.nlm.nih.gov/gene/SLC25A13 db key
individuals. Type II also has been reported in other populations, including GTR C1853942
other people from East Asia, the Middle East, the United States, and the United html:p db key
Kingdom. GTR C1863844
db key
GeneReviews citrin
db key
GeneReviews ctlm
db key
GeneReviews ucd-overview
db key
ICD-10-CM E72.23
db key
html:p MeSH D020159
db key
OMIM 215700
db key
OMIM 603471
db key
OMIM 605814
db key
html:p Orphanet 187
db key
SNOMED CT 398680004
related-gene-list
CLCN2-related leukoencephalopathy https://ghr.nlm.nih.gov/condition/clcn2-related-leukoencephalopathy The prevalence of CLCN2-related leukoencephalopathy is unknown. At least 16 html:p ar autosomal recessive CLCN2 synonym db-key db key 2017-12 2017-12-29
cases have been reported in the scientific literature. synonym GTR C3810242
synonym db-key db key
synonym GeneReviews cc2-leuk
synonym db-key db key
MeSH D056784
db-key db key
OMIM 615651
db-key db key
Orphanet 363540
html:p
html:p
related-gene-list
Cleidocranial dysplasia https://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia Cleidocranial dysplasia occurs in approximately 1 per million individuals html:p autosomal dominant RUNX2 https://ghr.nlm.nih.gov/gene/RUNX2 cleidocranial dysostosis db key 2017-08 2017-12-29
worldwide. It is likely underdiagnosed because many affected individuals have dento-osseous dysplasia GTR C0008928
mild signs and symptoms. Marie-Sainton syndrome db key
html:p GeneReviews ccd
db key
MeSH D002973
db key
OMIM 119600
db key
Orphanet 1452
db key
SNOMED CT 65976001
html:p
html:p
html:p
html:p
related-gene-list
CLN1 disease https://ghr.nlm.nih.gov/condition/cln1-disease The incidence of CLN1 disease is unknown; more than 200 cases have been html:p autosomal recessive PPT1 https://ghr.nlm.nih.gov/gene/PPT1 CLN1 db key 2016-10 2017-12-29
described in the scientific literature. Collectively, all forms of NCL affect an infantile Batten disease GTR C0268281
estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, infantile neuronal ceroid lipofuscinosis db key
where approximately 1 in 12,500 individuals are affected. neuronal ceroid lipofuscinosis 1 GTR C1850451
neuronal ceroid lipofuscinosis, infantile db key
Santavuori-Haltia disease GeneReviews ncl
db key
ICD-10-CM E75.4
db key
MeSH D009472
html:p db key
OMIM 256730
db key
Orphanet 79263
db key
SNOMED CT 58258004
html:p
related-gene-list
CLN10 disease https://ghr.nlm.nih.gov/condition/cln10-disease The prevalence of CLN10 disease is unknown; at least 11 cases have been html:p autosomal recessive CTSD https://ghr.nlm.nih.gov/gene/CTSD cathepsin D deficiency db key 2016-10 2017-12-29
described. cathepsin D deficient neuronal ceroid lipofuscinosis GTR C1864670
CLN10 db key
congenital neuronal ceroid lipofuscinosis GeneReviews ncl
neuronal ceroid lipofuscinosis 10 db key
neuronal ceroid lipofuscinosis due to cathepsin D deficiency ICD-10-CM E75.4
db key
MeSH D009472
db key
OMIM 610127
db key
Orphanet 168486
html:p db key
SNOMED CT 720830009
db key
SNOMED CT 720831008
html:p
related-gene-list
CLN2 disease https://ghr.nlm.nih.gov/condition/cln2-disease In the Newfoundland province of Canada, the incidence of CLN2 disease is html:p autosomal recessive TPP1 https://ghr.nlm.nih.gov/gene/TPP1 Jansky-Bielschowsky disease db key 2016-11 2017-12-29
estimated to be 9 in 100,000 births. The incidence of the condition outside of late-infantile Batten disease GTR C0022340
this population is unknown. More than 300 cases worldwide have been described in late-infantile neuronal ceroid lipofuscinosis db key
the scientific literature. LINCL GTR C0027877
neuronal ceroid lipofuscinosis, late-infantile db key
GTR C1876161
db key
GeneReviews ncl
db key
ICD-10-CM E75.4
html:p db key
MeSH D009472
db key
OMIM 204500
html:p db key
Orphanet 168491
db key
SNOMED CT 14637005
related-gene-list
CLN3 disease https://ghr.nlm.nih.gov/condition/cln3-disease CLN3 disease is the most common type of NCL, but its exact prevalence is html:p autosomal recessive CLN3 https://ghr.nlm.nih.gov/gene/CLN3 Batten-Mayou disease db key 2017-01 2017-12-29
unknown; more than 400 cases have been described in the scientific literature. Batten-Spielmeyer-Vogt disease GTR C0751383
Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals CLN3-related neuronal ceroid-lipofuscinosis db key
worldwide. juvenile Batten disease GeneReviews ncl
html:p Juvenile cerebroretinal degeneration db key
juvenile neuronal ceroid lipofuscinosis ICD-10-CM E75.4
Spielmeyer-Vogt disease db key
MeSH D009472
db key
OMIM 204200
db key
html:p Orphanet 79264
db key
SNOMED CT 61663001
html:p
related-gene-list
CLN4 disease https://ghr.nlm.nih.gov/condition/cln4-disease CLN4 disease is a rare disorder, but its prevalence is unknown. html:p autosomal dominant DNAJC5 https://ghr.nlm.nih.gov/gene/DNAJC5 adult neuronal ceroid lipofuscinosis db key 2017-01 2017-12-29
Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals ceroid cipofuscinosis, neuronal, 4B, autosomal dominant GTR C1834207
worldwide. CLN4B db key
GeneReviews ncl
html:p db key
ICD-10-CM E75.4
db key
MeSH D009472
db key
OMIM 162350
html:p db key
Orphanet 79262
db key
SNOMED CT 62009002
related-gene-list
CLN5 disease https://ghr.nlm.nih.gov/condition/cln5-disease The incidence of CLN5 disease is unknown; more than 85 cases have been html:p autosomal recessive CLN5 https://ghr.nlm.nih.gov/gene/CLN5 Finnish variant late infantile neuronal ceroid lipofuscinosis db key 2016-11 2017-12-29
described in the scientific literature. CLN5 disease was originally thought to Finnish vLINCL GTR C1850442
affect only the Finnish population as they were the first individuals to be Jansky-Bielschowsky disease db key
diagnosed with the condition. However, research has since shown that CLN5 late-infantile neuronal ceroid lipofuscinosis GeneReviews ncl
disease affects populations worldwide. NCLs, including CLN5 disease, are still neuronal ceroid lipofuscinosis 5 db key
most common in Finland, where approximately 1 in 12,500 individuals are neuronal ceroid lipofuscinosis, late-infantile ICD-10-CM E75.4
affected. Collectively, all forms of NCL affect an estimated 1 in 100,000 vLINCL db key
individuals worldwide. MeSH D009472
db key
OMIM 256731
db key
html:p Orphanet 168491
db key
SNOMED CT 14637005
related-gene-list
CLN6 disease https://ghr.nlm.nih.gov/condition/cln6-disease The incidence of CLN6 disease is unknown; more than 125 cases have been html:p autosomal recessive CLN6 https://ghr.nlm.nih.gov/gene/CLN6 ceroid lipofuscinosis neuronal 6 db key 2017-01 2017-12-29
described in the scientific literature. Collectively, all forms of NCL affect an CLN6-related neuronal ceroid lipofuscinosis GTR C1866282
estimated 1 in 100,000 individuals worldwide. neuronal ceroid lipofuscinosis 6 db key
html:p GeneReviews ncl
db key
ICD-10-CM E75.4
db key
MeSH D009472
db key
OMIM 601780
html:p db key
Orphanet 216
db key
SNOMED CT 14637005
html:p
related-gene-list
CLN7 disease https://ghr.nlm.nih.gov/condition/cln7-disease The incidence of CLN7 disease is unknown; more than 70 cases have been html:p autosomal recessive MFSD8 https://ghr.nlm.nih.gov/gene/MFSD8 CLN7 db key 2016-12 2017-12-29
described in the scientific literature. CLN7 disease was first diagnosed in the CLN7 disease, late infantile GTR C1838571
Turkish population and was thought to be limited to individuals in that group. MFSD8-related neuronal ceroid lipofuscinosis db key
However, CLN7 disease has now been identified in people around the world. GeneReviews ncl
Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals db key
worldwide. ICD-10-CM E75.4
db key
MeSH D009472
html:p db key
OMIM 610951
db key
Orphanet 168491
db key
SNOMED CT 14637005
related-gene-list
CLN8 disease https://ghr.nlm.nih.gov/condition/cln8-disease The less-severe form of CLN8 disease appears to affect only individuals of html:p autosomal recessive CLN8 https://ghr.nlm.nih.gov/gene/CLN8 neuronal ceroid lipofuscinosis 8 db key 2016-12 2017-12-29
Finnish ancestry, particularly those from the Kainuu region of northern Finland, GTR C1838570
which is why it is sometimes called Northern . Approximately 1 in db key
10,000 individuals in this region have the condition. The prevalence of the GTR C1864923
more-severe form of CLN8 disease is unknown. Collectively, all forms of NCL html:p db key
affect an estimated 1 in 100,000 individuals worldwide. GeneReviews ncl
db key
ICD-10-CM E75.4
db key
MeSH D009472
db key
MeSH D020191
db key
OMIM 600143
db key
OMIM 610003
db key
html:p Orphanet 216
db key
SNOMED CT 703526007
html:p
related-gene-list
Clopidogrel resistance https://ghr.nlm.nih.gov/condition/clopidogrel-resistance Clopidogrel resistance is a common condition, and its incidence can vary html:p autosomal codominant CYP2C19 https://ghr.nlm.nih.gov/gene/CYP2C19 CYP2C19-related poor drug metabolism db key 2015-12 2017-12-29
depending on ancestry. About half of individuals with Asian ancestry have poor metabolism of clopidogrel GTR C1836023
clopidogrel resistance, with 10 percent of these individuals classified as poor resistance to clopidogrel db key
metabolizers. Among people from western countries, nearly 30 percent are GTR C2674941
estimated to have clopidogrel resistance, with about 3 percent classified as db key
poor metabolizers. MeSH D004305
db key
OMIM 609535
db key
html:p Orphanet 240935
db key
SNOMED CT 419253001
html:p
html:p
related-gene-list
Clouston syndrome https://ghr.nlm.nih.gov/condition/clouston-syndrome The prevalence of Clouston syndrome is unknown. Cases have been reported in html:p autosomal dominant GJB6 https://ghr.nlm.nih.gov/gene/GJB6 Clouston hidrotic ectodermal dysplasia db key 2014-03 2017-12-29
many populations; the disorder is especially common among people of Clouston's syndrome GTR C0162361
French-Canadian descent. ECTD2 db key
ectodermal dysplasia 2, Clouston type GeneReviews ed2
HED2 db key
html:p hidrotic ectodermal dysplasia 2 MeSH D004476
db key
OMIM 129500
db key
Orphanet 189
html:p db key
SNOMED CT 54209007
html:p
related-gene-list
CLPB deficiency https://ghr.nlm.nih.gov/condition/clpb-deficiency CLPB deficiency is a rare disorder; the prevalence is not known. At least html:p autosomal recessive CLPB https://ghr.nlm.nih.gov/gene/CLPB 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome db key 2017-02 2017-12-29
26 cases have been reported in the medical literature. 3-methylglutaconic aciduria type 7 GTR C4225393
3-methylglutaconic aciduria type VII db key
3-methylglutaconic aciduria with cataracts, neurologic involvement and GeneReviews clpb-def
html:p neutropenia db key
MEGCANN MeSH D001927
MGA7 db key
MGCA7 OMIM 616271
db key
Orphanet 445038
html:p
html:p
html:p
html:p
related-gene-list
Coats plus syndrome https://ghr.nlm.nih.gov/condition/coats-plus-syndrome Coats plus syndrome appears to be a rare disorder. Its prevalence is html:p autosomal recessive CTC1 https://ghr.nlm.nih.gov/gene/CTC1 cerebroretinal microangiopathy with calcifications and cysts db key 2014-04 2017-12-29
unknown. CRMCC GTR C2677299
db key
html:p MeSH D012164
db key
OMIM 612199
db key
Orphanet 313838
html:p db key
SNOMED CT 711482008
html:p
html:p
related-gene-list
Cockayne syndrome https://ghr.nlm.nih.gov/condition/cockayne-syndrome Cockayne syndrome is estimated to occur in 2 to 3 per million newborns in html:p autosomal recessive ERCC6 https://ghr.nlm.nih.gov/gene/ERCC6 CS db key 2016-06 2017-12-29
the United States and Europe. related-gene gene-symbol ghr-page dwarfism-retinal atrophy-deafness syndrome GTR C0009207
ERCC8 https://ghr.nlm.nih.gov/gene/ERCC8 db key
GTR C0751037
db key
GTR C0751039
db key
GTR C2931277
db key
GeneReviews cockayne
html:p db key
MeSH D003057
db key
html:p OMIM 133540
db key
OMIM 214150
db key
OMIM 216400
db key
Orphanet 191
db key
related-gene-list SNOMED CT 21086008
Coffin-Lowry syndrome https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome The incidence of this condition is uncertain, but researchers estimate that html:p X-linked dominant RPS6KA3 https://ghr.nlm.nih.gov/gene/RPS6KA3 CLS db key 2016-02 2017-12-29
the disorder affects 1 in 40,000 to 50,000 people. Mental retardation with osteocartilaginous abnormalities GTR C0265252
db key
html:p GeneReviews cls
db key
MeSH D038921
db key
OMIM 303600
db key
html:p Orphanet 192
db key
SNOMED CT 15182000
related-gene-list
Coffin-Siris syndrome https://ghr.nlm.nih.gov/condition/coffin-siris-syndrome Coffin-Siris syndrome is a rare condition that is diagnosed in females more html:p autosomal dominant ARID1A https://ghr.nlm.nih.gov/gene/ARID1A dwarfism-onychodysplasia db key 2013-05 2017-12-29
frequently than in males. Approximately 140 cases have been reported in the related-gene gene-symbol ghr-page fifth digit syndrome GTR C0265338
medical literature. ARID1B https://ghr.nlm.nih.gov/gene/ARID1B mental retardation with hypoplastic fifth fingernails and toenails db key
related-gene gene-symbol ghr-page -onychodysplasia GeneReviews coffin-siris
html:p SMARCA4 https://ghr.nlm.nih.gov/gene/SMARCA4 db key
related-gene gene-symbol ghr-page MeSH D008607
SMARCB1 https://ghr.nlm.nih.gov/gene/SMARCB1 db key
related-gene gene-symbol ghr-page OMIM 135900
SMARCE1 https://ghr.nlm.nih.gov/gene/SMARCE1 db key
Orphanet 1465
db key
SNOMED CT 10007009
html:p
inheritance-pattern-list related-gene-list
COG5-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/cog5-congenital-disorder-of-glycosylation COG5-CDG is a very rare disorder; fewer than 10 cases have been described html:p ar autosomal recessive ghr-page carbohydrate deficient glycoprotein syndrome type IIi db-key db key 2014-08 2017-12-29
in the medical literature. https://ghr.nlm.nih.gov/gene/COG5 CDG IIi GTR C3150876
CDG2I db-key db key
CDGIIi GeneReviews cdg
html:p COG5-CDG db-key db key
congenital disorder of glycosylation type IIi MeSH D018981
db-key db key
OMIM 613612
db-key db key
Orphanet 263487
db-key db key
SNOMED CT 721100009
related-gene-list
Cohen syndrome https://ghr.nlm.nih.gov/condition/cohen-syndrome The exact incidence of Cohen syndrome is unknown. It has been diagnosed in html:p autosomal recessive VPS13B https://ghr.nlm.nih.gov/gene/VPS13B , obesity, and prominent incisors db key 2017-06 2017-12-29
fewer than 1,000 people worldwide. More cases are likely undiagnosed. Norio syndrome GTR C0265223
obesity- syndrome db key
Pepper syndrome GeneReviews cohen
prominent incisors-obesity- syndrome db key
MeSH D000015
db key
MeSH D002658
db key
OMIM 216550
db key
html:p Orphanet 193
db key
SNOMED CT 56604005
inheritance-pattern-list
COL4A1-related brain small-vessel disease https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease COL4A1-related brain small-vessel disease is a rare condition, although the html:p ad related-gene ghr-page synonym brain small-vessel disease with hemorrhage db-key db key 2011-09 2017-12-29
exact prevalence is unknown. At least 50 individuals with this condition have -related brain small-vessel disease is characterized by weakening of the blood https://ghr.nlm.nih.gov/gene/COL4A1 GTR C1843512
been described in the scientific literature. vessels in the brain. Stroke is often the first symptom of this condition, db-key db key
typically occurring in mid-adulthood. In affected individuals, stroke is usually GeneReviews col4a1-dis
caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of db-key db key
blood flow in the brain (ischemic stroke), although either type can occur. MeSH D002543
Individuals with this condition are at increased risk of having more than one db-key db key
html:i -related brain small vessel disease also have leukoencephalopathy, which is a OMIM 607595
COL4A1 change in a type of brain tissue called white matter that can be seen with db-key db key
magnetic resonance imaging (MRI). Affected individuals may also experience Orphanet 36383
and migraine headaches accompanied by visual sensations known as auras. db-key db key
html:p SNOMED CT 443929000
html:p
related-gene-list
Cold-induced sweating syndrome https://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome Cold-induced sweating syndrome is a rare condition; its prevalence is html:p autosomal recessive CLCF1 https://ghr.nlm.nih.gov/gene/CLCF1 CISS db key 2012-08 2017-12-29
unknown. The condition was first identified in the Sardinian population, but it related-gene gene-symbol ghr-page CNTF receptor-related disorders GTR C1848947
has since been reported in regions worldwide. CRLF1 https://ghr.nlm.nih.gov/gene/CRLF1 Crisponi syndrome db key
Sohar-Crisponi syndrome GTR C1853198
db key
GTR C4310742
html:p db key
GTR CN043579
db key
GTR CN169295
db key
GeneReviews ciss
db key
MeSH D000015
db key
MeSH D005334
db key
html:p OMIM 272430
db key
OMIM 610313
db key
OMIM 617055
db key
Orphanet 1545
db key
Orphanet 157820
html:p db key
SNOMED CT 702363009
related-gene-list
Cole disease https://ghr.nlm.nih.gov/condition/cole-disease Cole disease is a rare disease; its prevalence is unknown. Only a few html:p autosomal dominant ENPP1 https://ghr.nlm.nih.gov/gene/ENPP1 guttate hypopigmentation and punctate palmoplantar keratoderma with or without db key 2015-01 2017-12-29
affected families have been described in the medical literature. ectopic calcification GTR C3809781
db key
ICD-10-CM L85.2
db key
html:p MeSH D007645
db key
OMIM 615522
db key
related-gene-list SNOMED CT 711154007
Collagen VI-related myopathy https://ghr.nlm.nih.gov/condition/collagen-vi-related-myopathy Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to html:p autosomal dominant COL6A1 https://ghr.nlm.nih.gov/gene/COL6A1 collagen type VI-related disorders db key 2015-10 2017-12-29
occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy memo related-gene gene-symbol ghr-page collagen VI-related myopathies GTR C0410179
is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the autosomal recessive COL6A2 https://ghr.nlm.nih.gov/gene/COL6A2 ColVI myopathies db key
intermediate form have been described in the scientific literature. related-gene gene-symbol ghr-page GTR C1834674
COL6A3 https://ghr.nlm.nih.gov/gene/COL6A3 db key
GTR CN117976
db key
GTR CN230143
db key
html:p GeneReviews bethlem
db key
MeSH D009136
db key
OMIM 158810
db key
OMIM 254090
db key
Orphanet 610
db key
Orphanet 75840
html:p db key
SNOMED CT 193222002
db key
SNOMED CT 240062007
html:p
html:p
related-gene-list
Coloboma https://ghr.nlm.nih.gov/condition/coloboma Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does html:p autosomal dominant GDF3 https://ghr.nlm.nih.gov/gene/GDF3 congenital ocular coloboma db key 2011-11 2017-12-29
not always affect vision or the outward appearance of the eye, some people with memo related-gene gene-symbol ghr-page microphthalmia, isolated, with coloboma GTR C0009363
this condition are likely undiagnosed. autosomal recessive GDF6 https://ghr.nlm.nih.gov/gene/GDF6 ocular coloboma db key
memo related-gene gene-symbol ghr-page uveoretinal coloboma GeneReviews anophthalmia-ov
not inherited MAF https://ghr.nlm.nih.gov/gene/MAF db key
memo related-gene gene-symbol ghr-page ICD-10-CM H47.31
X-linked dominant OTX2 https://ghr.nlm.nih.gov/gene/OTX2 db key
html:p memo related-gene gene-symbol ghr-page ICD-10-CM H47.311
X-linked recessive PAX6 https://ghr.nlm.nih.gov/gene/PAX6 db key
related-gene gene-symbol ghr-page ICD-10-CM H47.312
SHH https://ghr.nlm.nih.gov/gene/SHH db key
related-gene gene-symbol ghr-page ICD-10-CM H47.313
VSX2 https://ghr.nlm.nih.gov/gene/VSX2 db key
ICD-10-CM H47.319
html:p db key
ICD-10-CM Q12.2
db key
ICD-10-CM Q13.0
db key
MeSH D003103
db key
OMIM 120200
html:p db key
OMIM 216820
db key
SNOMED CT 93390002
html:p
html:p
related-gene-list
Color vision deficiency https://ghr.nlm.nih.gov/condition/color-vision-deficiency Red-green color vision defects are the most common form of color vision html:p autosomal dominant OPN1LW https://ghr.nlm.nih.gov/gene/OPN1LW color blindness db key 2015-01 2017-12-29
deficiency. This condition affects males much more often than females. Among memo related-gene gene-symbol ghr-page color vision defects GTR C0155015
populations with Northern European ancestry, it occurs in about 1 in 12 males X-linked recessive OPN1MW https://ghr.nlm.nih.gov/gene/OPN1MW defective color vision db key
and 1 in 200 females. Red-green color vision defects have a lower incidence in related-gene gene-symbol ghr-page vision defect, color GTR C0155016
almost all other populations studied.Blue-yellow color vision defects affect OPN1SW https://ghr.nlm.nih.gov/gene/OPN1SW db key
males and females equally. This condition occurs in fewer than 1 in 10,000 GTR C0155017
people worldwide.Blue cone monochromacy is rarer than the other forms of color db key
vision deficiency, affecting about 1 in 100,000 people worldwide. Like red-green GTR C0339537
color vision defects, blue cone monochromacy affects males much more often than db key
females. html:p GTR CN043660
db key
ICD-10-CM H53.5
db key
ICD-10-CM H53.50
db key
ICD-10-CM H53.51
db key
ICD-10-CM H53.52
db key
ICD-10-CM H53.53
db key
ICD-10-CM H53.54
db key
ICD-10-CM H53.55
db key
ICD-10-CM H53.59
db key
MeSH D003117
db key
OMIM 190900
db key
OMIM 303700
db key
OMIM 303800
db key
OMIM 303900
db key
Orphanet 16
db key
Orphanet 319691
db key
Orphanet 319698
db key
SNOMED CT 193683001
db key
SNOMED CT 24704003
db key
SNOMED CT 367469000
db key
SNOMED CT 51445007
db key
SNOMED CT 51886007
db key
related-gene-list SNOMED CT 77479002
Combined malonic and methylmalonic aciduria https://ghr.nlm.nih.gov/condition/combined-malonic-and-methylmalonic-aciduria CMAMMA appears to be a rare disease. Approximately a dozen cases have been html:p autosomal recessive ACSF3 https://ghr.nlm.nih.gov/gene/ACSF3 CMAMMA db key 2013-01 2017-12-29
reported in the scientific literature. GTR C3280314
db key
MeSH D008661
db key
html:p OMIM 614265
db key
Orphanet 289504
db key
SNOMED CT 702365002
html:p
related-gene-list
Combined oxidative phosphorylation deficiency 1 https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency- Combined oxidative phosphorylation deficiency 1 is likely a rare disorder, html:p autosomal recessive GFM1 https://ghr.nlm.nih.gov/gene/GFM1 COXPD1 db key 2017-09 2017-12-29
1 although its prevalence is unknown. At least 12 affected individuals have been early fatal progressive hepatoencephalopathy GTR C1836797
described in the scientific literature. html:p hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 db key
MeSH D028361
db key
OMIM 609060
db key
Orphanet 137681
html:p
html:p
related-gene-list
Combined pituitary hormone deficiency https://ghr.nlm.nih.gov/condition/combined-pituitary-hormone-deficiency The prevalence of combined pituitary hormone deficiency is estimated to be html:p autosomal dominant GLI2 https://ghr.nlm.nih.gov/gene/GLI2 CPHD db key 2010-08 2017-12-29
1 in 8,000 individuals worldwide. memo related-gene gene-symbol ghr-page panhypopituitarism GTR C0878683
autosomal recessive HESX1 https://ghr.nlm.nih.gov/gene/HESX1 db key
related-gene gene-symbol ghr-page GTR C1857330
LHX3 https://ghr.nlm.nih.gov/gene/LHX3 db key
related-gene gene-symbol ghr-page GTR C2678408
html:p LHX4 https://ghr.nlm.nih.gov/gene/LHX4 db key
related-gene gene-symbol ghr-page GTR C2750026
OTX2 https://ghr.nlm.nih.gov/gene/OTX2 db key
related-gene gene-symbol ghr-page GTR C2751608
POU1F1 https://ghr.nlm.nih.gov/gene/POU1F1 db key
related-gene gene-symbol ghr-page GTR C3151440
PROKR2 https://ghr.nlm.nih.gov/gene/PROKR2 db key
related-gene gene-symbol ghr-page GTR CN206774
html:p PROP1 https://ghr.nlm.nih.gov/gene/PROP1 db key
related-gene gene-symbol ghr-page GeneReviews prop1
SOX2 https://ghr.nlm.nih.gov/gene/SOX2 db key
ICD-10-CM E23.0
db key
MeSH D007018
db key
OMIM 221750
db key
OMIM 262600
db key
OMIM 262700
db key
OMIM 613038
db key
SNOMED CT 190470005
db key
SNOMED CT 237682009
db key
SNOMED CT 237683004
db key
SNOMED CT 32390006
db key
SNOMED CT 367460001
db key
SNOMED CT 71003000
db key
related-gene-list SNOMED CT 91187007
Common variable immune deficiency https://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, html:p autosomal dominant CD19 https://ghr.nlm.nih.gov/gene/CD19 common variable hypogammaglobulinemia db key 2016-05 2017-12-29
although the prevalence can vary across different populations. memo related-gene gene-symbol ghr-page common variable immunodeficiency GTR C0009447
autosomal recessive CD81 https://ghr.nlm.nih.gov/gene/CD81 CVID db key
memo related-gene gene-symbol ghr-page immunodeficiency, common variable GTR C3149378
pattern unknown CR2 https://ghr.nlm.nih.gov/gene/CR2 db key
related-gene gene-symbol ghr-page GTR C3150354
ICOS https://ghr.nlm.nih.gov/gene/ICOS db key
related-gene gene-symbol ghr-page GTR C3150738
IKZF1 https://ghr.nlm.nih.gov/gene/IKZF1 db key
related-gene gene-symbol ghr-page GTR C3150739
html:p IL21 https://ghr.nlm.nih.gov/gene/IL21 db key
related-gene gene-symbol ghr-page GTR C3150740
LRBA https://ghr.nlm.nih.gov/gene/LRBA db key
related-gene gene-symbol ghr-page GTR C3150741
MS4A1 https://ghr.nlm.nih.gov/gene/MS4A1 db key
related-gene gene-symbol ghr-page GTR C3542922
NFKB1 https://ghr.nlm.nih.gov/gene/NFKB1 db key
related-gene gene-symbol ghr-page GTR C3553512
NFKB2 https://ghr.nlm.nih.gov/gene/NFKB2 db key
related-gene gene-symbol ghr-page GTR C3809928
PRKCD https://ghr.nlm.nih.gov/gene/PRKCD db key
html:p related-gene gene-symbol ghr-page GTR C3809991
TNFRSF13B https://ghr.nlm.nih.gov/gene/TNFRSF13B db key
related-gene gene-symbol ghr-page GTR C4014258
TNFRSF13C https://ghr.nlm.nih.gov/gene/TNFRSF13C db key
GTR C4225277
html:p db key
ICD-10-CM D83
db key
ICD-10-CM D83.0
db key
ICD-10-CM D83.8
db key
ICD-10-CM D83.9
db key
MeSH D017074
db key
OMIM 240500
db key
OMIM 607594
db key
OMIM 613493
db key
OMIM 613494
db key
OMIM 613495
db key
OMIM 613496
db key
OMIM 614699
db key
OMIM 614700
db key
OMIM 615559
db key
OMIM 615577
db key
OMIM 615767
db key
OMIM 616576
db key
OMIM 616873
db key
Orphanet 1572
db key
SNOMED CT 191011000
db key
related-gene-list SNOMED CT 23238000
Complement component 2 deficiency https://ghr.nlm.nih.gov/condition/complement-component-2-deficiency In Western countries, complement component 2 deficiency is estimated to html:p autosomal recessive C2 https://ghr.nlm.nih.gov/gene/C2 C2 deficiency db key 2014-06 2017-12-29
affect 1 in 20,000 individuals; its prevalence in other areas of the world is C2D GTR C3150275
unknown. complement 2 deficiency db key
MeSH D007153
db key
OMIM 217000
db key
Orphanet 169147
db key
html:p SNOMED CT 234599007
html:p
related-gene-list
Complement component 8 deficiency https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency Complement component 8 deficiency is a rare disorder, although its html:p ar autosomal recessive C8A synonym db-key db key 2015-12 2017-12-29
prevalence is unknown. Type I occurs in several populations, particularly in related-gene gene-symbol GTR C3151080
people with Hispanic, Japanese, or African Caribbean heritage, whereas type II C8B db-key db key
primarily occurs in people of Northern European descent. GTR C3151081
db-key db key
ICD-10-CM D84.1
db-key db key
MeSH D007153
db-key db key
OMIM 613789
html:p db-key db key
OMIM 613790
db-key db key
html:p Orphanet 33475
db-key db key
SNOMED CT 234614005
db-key db key
related-gene-list SNOMED CT 234616007
Complement factor I deficiency https://ghr.nlm.nih.gov/condition/complement-factor-i-deficiency Complement factor I deficiency is a rare disorder; its exact prevalence is html:p autosomal recessive CFI https://ghr.nlm.nih.gov/gene/CFI C3 inactivator deficiency db key 2010-09 2017-12-29
unknown. At least 38 cases have been reported in the medical literature. complement component 3 inactivator deficiency GTR C0019250
hereditary factor I deficiency disease db key
MeSH D007153
db key
html:p OMIM 610984
db key
SNOMED CT 234621005
related-gene-list
Complete LCAT deficiency https://ghr.nlm.nih.gov/condition/complete-lcat-deficiency Complete LCAT deficiency is a rare disorder. Approximately 70 cases have html:p autosomal recessive LCAT https://ghr.nlm.nih.gov/gene/LCAT familial LCAT deficiency db key 2013-08 2017-12-29
been reported in the medical literature. familial lecithin-cholesterol acyltransferase deficiency GTR C0023195
html:p FLD db key
LCAT deficiency MeSH D007863
lecithin acyltransferase deficiency db key
lecithin:cholesterol acyltransferase deficiency OMIM 245900
Norum disease db key
Norum's disease Orphanet 79293
db key
SNOMED CT 238091006
html:p
html:p
related-gene-list
Complete plasminogen activator inhibitor 1 deficiency https://ghr.nlm.nih.gov/condition/complete-plasminogen-activator-inhibitor-1-def Complete PAI-1 deficiency is a rare disorder; its prevalence is unknown. It html:p autosomal recessive SERPINE1 https://ghr.nlm.nih.gov/gene/SERPINE1 complete PAI-1 deficiency db key 2017-10 2017-12-29
iciency has been well studied in a large family belonging to the Old Order Amish congenital plasminogen activator inhibitor type 1 deficiency GTR C2750067
population of eastern and southern Indiana. Additional cases in North America, homozygous PAI-1 deficiency db key
Europe, and Asia have been described in the medical literature.Complete PAI-1 hyperfibrinolysis due to PAI1 deficiency GeneReviews pai-1-def
deficiency is inherited equally by both sexes, but tends to be diagnosed earlier html:p PAI-1 deficiency db key
and more frequently in females because of its effects on menstruation, PAI-1D MeSH D025861
pregnancy, and childbirth. PAI1 deficiency db key
plasminogen activator inhibitor type 1 deficiency OMIM 613329
plasminogen inhibitor-1 deficiency db key
quantitative PAI-1 deficiency Orphanet 465
db key
html:p SNOMED CT 717407006
related-gene-list
Cone-rod dystrophy https://ghr.nlm.nih.gov/condition/cone-rod-dystrophy Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 html:p autosomal dominant ABCA4 https://ghr.nlm.nih.gov/gene/ABCA4 cone-rod degeneration db key 2016-02 2017-12-29
individuals. memo related-gene gene-symbol ghr-page cone-rod retinal dystrophy GTR C1423873
autosomal recessive ADAM9 https://ghr.nlm.nih.gov/gene/ADAM9 CORD db key
memo related-gene gene-symbol ghr-page CRD GTR C1832976
X-linked recessive AIPL1 https://ghr.nlm.nih.gov/gene/AIPL1 retinal cone-rod dystrophy db key
html:p related-gene gene-symbol ghr-page tapetoretinal degeneration GTR C1833564
C8orf37 https://ghr.nlm.nih.gov/gene/C8orf37 db key
related-gene gene-symbol ghr-page GTR C1835865
C21orf2 https://ghr.nlm.nih.gov/gene/C21orf2 db key
related-gene gene-symbol ghr-page GTR C1844776
CACNA1F https://ghr.nlm.nih.gov/gene/CACNA1F db key
related-gene gene-symbol ghr-page GTR C1845407
CACNA2D4 https://ghr.nlm.nih.gov/gene/CACNA2D4 db key
related-gene gene-symbol ghr-page GTR C1846529
CDHR1 https://ghr.nlm.nih.gov/gene/CDHR1 db key
html:p related-gene gene-symbol ghr-page GTR C1854180
CERKL https://ghr.nlm.nih.gov/gene/CERKL db key
related-gene gene-symbol ghr-page GTR C1858806
CNGA3 https://ghr.nlm.nih.gov/gene/CNGA3 db key
related-gene gene-symbol ghr-page GTR C1863634
CNGB3 https://ghr.nlm.nih.gov/gene/CNGB3 db key
related-gene gene-symbol ghr-page GTR C1866293
CNNM4 https://ghr.nlm.nih.gov/gene/CNNM4 db key
related-gene gene-symbol ghr-page GTR C2675210
CRB1 https://ghr.nlm.nih.gov/gene/CRB1 db key
related-gene gene-symbol ghr-page GTR C2750720
CRX https://ghr.nlm.nih.gov/gene/CRX db key
related-gene gene-symbol ghr-page GTR C2751764
EYS https://ghr.nlm.nih.gov/gene/EYS db key
related-gene gene-symbol ghr-page GTR C3150912
GUCA1A https://ghr.nlm.nih.gov/gene/GUCA1A db key
related-gene gene-symbol ghr-page GTR C3281045
GUCY2D https://ghr.nlm.nih.gov/gene/GUCY2D db key
related-gene gene-symbol ghr-page GTR C3554610
KCNV2 https://ghr.nlm.nih.gov/gene/KCNV2 db key
related-gene gene-symbol ghr-page GTR C3809299
PDE6C https://ghr.nlm.nih.gov/gene/PDE6C db key
related-gene gene-symbol ghr-page GTR C4014501
PITPNM3 https://ghr.nlm.nih.gov/gene/PITPNM3 db key
related-gene gene-symbol ghr-page GTR C4014856
POC1B https://ghr.nlm.nih.gov/gene/POC1B db key
related-gene gene-symbol ghr-page GTR C4085590
PROM1 https://ghr.nlm.nih.gov/gene/PROM1 db key
related-gene gene-symbol ghr-page GTR CN074280
PRPH2 https://ghr.nlm.nih.gov/gene/PRPH2 db key
related-gene gene-symbol ghr-page GTR CN231743
RAB28 https://ghr.nlm.nih.gov/gene/RAB28 db key
related-gene gene-symbol ghr-page ICD-10-CM H35.52
RAX2 https://ghr.nlm.nih.gov/gene/RAX2 db key
related-gene gene-symbol ghr-page MeSH D000071700
RIMS1 https://ghr.nlm.nih.gov/gene/RIMS1 db key
related-gene gene-symbol ghr-page OMIM 120970
RPGR https://ghr.nlm.nih.gov/gene/RPGR db key
related-gene gene-symbol ghr-page OMIM 300085
RPGRIP1 https://ghr.nlm.nih.gov/gene/RPGRIP1 db key
related-gene gene-symbol ghr-page OMIM 300476
SEMA4A https://ghr.nlm.nih.gov/gene/SEMA4A db key
related-gene gene-symbol ghr-page OMIM 304020
TTLL5 https://ghr.nlm.nih.gov/gene/TTLL5 db key
related-gene gene-symbol ghr-page OMIM 600624
TULP1 https://ghr.nlm.nih.gov/gene/TULP1 db key
related-gene gene-symbol ghr-page OMIM 600977
UNC119 https://ghr.nlm.nih.gov/gene/UNC119 db key
OMIM 601777
db key
OMIM 602093
db key
OMIM 603649
db key
OMIM 604116
db key
OMIM 605549
db key
OMIM 608194
db key
OMIM 610283
db key
OMIM 610381
db key
OMIM 612657
db key
OMIM 612775
db key
OMIM 615163
db key
OMIM 615374
db key
OMIM 615860
db key
OMIM 615973
db key
OMIM 616502
db key
Orphanet 1872
db key
related-gene-list SNOMED CT 80328002
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency https://ghr.nlm.nih.gov/condition/congenital-adrenal-hyperplasia-due-to-11-beta- CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of html:p autosomal recessive CYP11B1 https://ghr.nlm.nih.gov/gene/CYP11B1 11 beta hydroxylase deficiency db key 2011-03 2017-12-29
hydroxylase-deficiency all cases of congenital adrenal hyperplasia. It is estimated that CAH due to 11b hydroxylase deficiency GTR C0268292
11-beta-hydroxylase deficiency occurs in 1 in 100,000 to 200,000 newborns. This adrenal hyperplasia, hypertensive form db key
condition is more common in Moroccan Jews living in Israel, occurring in deficiency of steroid 11-beta-monooxygenase ICD-10-CM E25.0
approximately 1 in 5,000 to 7,000 newborns. The classic form of CAH due to P450C11B1 deficiency db key
11-beta-hydroxylase deficiency appears to be much more common than the steroid 11 beta hydroxylase deficiency MeSH D000312
non-classic form. html:p db key
OMIM 202010
db key
html:p Orphanet 90795
db key
SNOMED CT 124214007
db key
SNOMED CT 237751000
html:p
related-gene-list
Congenital afibrinogenemia https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia Congenital afibrinogenemia is a rare condition that occurs in approximately html:p autosomal recessive FGA https://ghr.nlm.nih.gov/gene/FGA afibrinogenemia db key 2014-09 2017-12-29
1 in 1 million newborns. related-gene gene-symbol ghr-page familial afibrinogenemia GTR C0019250
FGB https://ghr.nlm.nih.gov/gene/FGB db key
related-gene gene-symbol ghr-page MeSH D000347
FGG https://ghr.nlm.nih.gov/gene/FGG db key
OMIM 202400
db key
Orphanet 98880
db key
SNOMED CT 154818001
related-gene-list
Congenital bilateral absence of the vas deferens https://ghr.nlm.nih.gov/condition/congenital-bilateral-absence-of-the-vas-defere This condition is responsible for 1 percent to 2 percent of all infertility html:p autosomal recessive CFTR https://ghr.nlm.nih.gov/gene/CFTR Absence of vas deferens db key 2008-01 2017-12-29
ns in men. Absent vasa GTR C0403814
CAVD db key
CBAVD GeneReviews cf
Congenital absence of vas deferens db key
Congenital aplasia of vas deferens ICD-10-CM Q55.3
congenital bilateral absence of vas deferens db key
html:p MeSH D052801
db key
OMIM 277180
db key
Orphanet 48
db key
SNOMED CT 275416002
db key
related-gene-list SNOMED CT 5286009
Congenital bile acid synthesis defect type 1 https://ghr.nlm.nih.gov/condition/congenital-bile-acid-synthesis-defect-type-1 The prevalence of congenital bile acid synthesis defect type 1 is unknown; html:p autosomal recessive HSD3B7 https://ghr.nlm.nih.gov/gene/HSD3B7 3beta-HSDH deficiency db key 2015-04 2017-12-29
however, it is the most common of all the congenital defects of bile acid 3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency GTR C1843116
synthesis. Together, these conditions are thought to have a prevalence of 1 to 9 3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency db key
per million people. CBAS1 MeSH D002779
db key
OMIM 607765
db key
Orphanet 79168
html:p db key
Orphanet 79301
db key
SNOMED CT 235915002
db key
SNOMED CT 238033007
html:p
related-gene-list
Congenital bile acid synthesis defect type 2 https://ghr.nlm.nih.gov/condition/congenital-bile-acid-synthesis-defect-type-2 The prevalence of congenital bile acid synthesis defect type 2 is unknown. html:p autosomal recessive AKR1D1 https://ghr.nlm.nih.gov/gene/AKR1D1 CBAS2 db key 2015-04 2017-12-29
Together, all congenital defects of bile acid synthesis are thought to have a cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency GTR C1856127
prevalence of 1 to 9 per million people. db key
MeSH D002779
db key
OMIM 235555
db key
Orphanet 79168
html:p db key
Orphanet 79303
db key
SNOMED CT 235915002
db key
SNOMED CT 238035000
html:p
related-gene-list
Congenital cataracts, facial dysmorphism, and neuropathy https://ghr.nlm.nih.gov/condition/congenital-cataracts-facial-dysmorphism-and-ne The prevalence of CCFDN is unknown. The disorder has been identified in html:p autosomal recessive CTDP1 https://ghr.nlm.nih.gov/gene/CTDP1 CCFDN db key 2010-04 2017-12-29
uropathy about 150 individuals of Romani ethnicity. Thus far, no affected individuals GTR C1858726
have been observed outside this community. db key
GeneReviews ccfdn
db key
MeSH D015417
db key
OMIM 604168
html:p db key
Orphanet 48431
db key
SNOMED CT 702433001
html:p
html:p
related-gene-list
Congenital central hypoventilation syndrome https://ghr.nlm.nih.gov/condition/congenital-central-hypoventilation-syndrome CCHS is a relatively rare disorder. Approximately 1,000 individuals with html:p autosomal dominant PHOX2B https://ghr.nlm.nih.gov/gene/PHOX2B CCHS db key 2008-09 2017-12-29
this condition have been identified. Researchers believe that some cases of congenital central hypoventilation GTR C1275808
sudden infant death syndrome (SIDS) or sudden unexplained death in children may congenital failure of autonomic control db key
be caused by undiagnosed CCHS. Haddad syndrome GeneReviews ondine
Ondine-Hirschsprung disease db key
Ondine Syndrome ICD-10-CM G47.35
db key
MeSH D020182
db key
OMIM 209880
db key
html:p Orphanet 661
db key
SNOMED CT 399040002
html:p
html:p
related-gene-list
Congenital contractural arachnodactyly https://ghr.nlm.nih.gov/condition/congenital-contractural-arachnodactyly The prevalence of congenital contractural arachnodactyly is estimated to be html:p autosomal dominant FBN2 https://ghr.nlm.nih.gov/gene/FBN2 arthrogyroposis, distal, type 9 db key 2013-07 2017-12-29
less than 1 in 10,000 worldwide. Beals-Hecht syndrome GTR C0220668
Beals syndrome db key
CCA GeneReviews cca
contractural arachnodactyly, congenital db key
DA9 MeSH D001176
distal arthrogyropsis type 9 db key
OMIM 121050
db key
Orphanet 115
db key
SNOMED CT 205821003
html:p
related-gene-list
Congenital deafness with labyrinthine aplasia, microtia, and microdontia https://ghr.nlm.nih.gov/condition/congenital-deafness-with-labyrinthine-aplasia- LAMM syndrome is a rare condition, although its prevalence is unknown. html:p autosomal recessive FGF3 https://ghr.nlm.nih.gov/gene/FGF3 congenital deafness with inner ear agenesis, microtia, and microdontia db key 2012-11 2017-12-29
microtia-and-microdontia Approximately a dozen affected families have been identified. deafness with LAMM GTR C1853144
LAMM syndrome db key
GeneReviews df-lamm
db key
MeSH D006311
db key
Orphanet 90024
db key
SNOMED CT 702360007
related-gene-list
Congenital diaphragmatic hernia https://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns. html:p pattern unknown GATA4 https://ghr.nlm.nih.gov/gene/GATA4 congenital diaphragmatic defect db key 2013-09 2017-12-29
related-gene gene-symbol ghr-page GTR C1840644
ZFPM2 https://ghr.nlm.nih.gov/gene/ZFPM2 db key
GTR C1857284
db key
GTR C1857781
db key
GeneReviews cdh-ov
db key
html:p ICD-10-CM Q79.0
db key
MeSH D006548
db key
OMIM 142340
html:p db key
OMIM 222400
db key
OMIM 610187
db key
Orphanet 2140
db key
SNOMED CT 17190001
related-gene-list
Congenital dyserythropoietic anemia https://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia Several hundred cases of CDA have been reported worldwide. CDA type II is html:p autosomal dominant CDAN1 https://ghr.nlm.nih.gov/gene/CDAN1 Anemia, Dyserythropoietic, Congenital db key 2009-07 2017-12-29
the most common form of the disorder, with more than 300 reported cases. CDA memo related-gene gene-symbol ghr-page CDA GTR C0002876
type III is the rarest form; it has been described in only a few families from autosomal recessive SEC23B https://ghr.nlm.nih.gov/gene/SEC23B db key
Sweden, Argentina, and the United States. The incidence of CDA type I is GeneReviews cda1
unknown. Because CDA is so rare and its signs and symptoms overlap with those of db key
other disorders, many cases likely remain undiagnosed or are incorrectly ICD-10-CM D64.4
diagnosed as other disorders. html:p db key
MeSH D000742
db key
html:p OMIM 105600
db key
OMIM 224100
db key
OMIM 224120
db key
Orphanet 85
db key
SNOMED CT 26409005
html:p db key
SNOMED CT 52951008
db key
SNOMED CT 59548005
db key
SNOMED CT 68870007
html:p
html:p
related-gene-list
Congenital fiber-type disproportion https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion Congenital fiber-type disproportion is thought to be a rare condition, html:p autosomal dominant ACTA1 https://ghr.nlm.nih.gov/gene/ACTA1 CFTD db key 2016-05 2017-12-29
although its prevalence is unknown. memo related-gene gene-symbol ghr-page CFTDM GTR C0546264
autosomal recessive MYH7 https://ghr.nlm.nih.gov/gene/MYH7 congenital myopathy with fiber type disproportion db key
memo related-gene gene-symbol ghr-page GeneReviews cftd
X-linked RYR1 https://ghr.nlm.nih.gov/gene/RYR1 db key
related-gene gene-symbol ghr-page MeSH D020914
TPM2 https://ghr.nlm.nih.gov/gene/TPM2 db key
related-gene gene-symbol ghr-page Orphanet 2020
TPM3 https://ghr.nlm.nih.gov/gene/TPM3 db key
SNOMED CT 240084007
html:p
related-gene-list
Congenital fibrosis of the extraocular muscles https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles CFEOM1 is the most common form of congenital fibrosis of the extraocular html:p autosomal dominant KIF21A https://ghr.nlm.nih.gov/gene/KIF21A CFEOM db key 2009-03 2017-12-29
muscles, affecting at least 1 in 230,000 people. CFEOM1 and CFEOM3 have been memo related-gene gene-symbol ghr-page congenital external ophthalmoplegia GTR CN043677
reported worldwide, whereas CFEOM2 has been seen in only a few families of autosomal recessive PHOX2A https://ghr.nlm.nih.gov/gene/PHOX2A congenital fibrosis of extraocular muscles db key
Turkish, Saudi Arabian, and Iranian descent. Tukel syndrome appears to be very congenital fibrosis syndrome GeneReviews cfeom
rare; it has been diagnosed in only one large Turkish family. general fibrosis syndrome db key
MeSH D015785
db key
OMIM 135700
db key
OMIM 600638
db key
html:p OMIM 602078
db key
OMIM 609428
db key
Orphanet 45358
db key
SNOMED CT 204217005
db key
related-gene-list SNOMED CT 400946004
Congenital generalized lipodystrophy https://ghr.nlm.nih.gov/condition/congenital-generalized-lipodystrophy Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 html:p autosomal recessive AGPAT2 https://ghr.nlm.nih.gov/gene/AGPAT2 Berardinelli-Seip congenital lipodystrophy db key 2016-01 2017-12-29
million people worldwide. Between 300 and 500 people with the condition have related-gene gene-symbol ghr-page Berardinelli-Seip syndrome GTR C0221032
been described in the medical literature. Although this condition has been BSCL2 https://ghr.nlm.nih.gov/gene/BSCL2 Brunzell syndrome (with bone cysts) db key
reported in populations around the world, it appears to be more common in related-gene gene-symbol ghr-page BSCL GTR C1720862
certain regions of Lebanon and Brazil. CAV1 https://ghr.nlm.nih.gov/gene/CAV1 generalized lipodystrophy db key
related-gene gene-symbol ghr-page lipodystrophy, congenital generalized GTR C1720863
CAVIN1 https://ghr.nlm.nih.gov/gene/CAVIN1 Seip syndrome db key
total lipodystrophy GTR C2675861
db key
GTR C2750069
html:p db key
GeneReviews bscl
db key
MeSH D052497
db key
OMIM 269700
db key
OMIM 608594
db key
OMIM 612526
db key
OMIM 613327
db key
Orphanet 528
html:p db key
SNOMED CT 284449005
html:p
related-gene-list
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects https://ghr.nlm.nih.gov/condition/congenital-hemidysplasia-with-ichthyosiform-er CHILD syndrome is a rare disorder; it has been reported in about 60 people html:p X-linked dominant NSDHL https://ghr.nlm.nih.gov/gene/NSDHL CHILD syndrome db key 2008-07 2017-12-29
ythroderma-and-limb-defects worldwide. This condition occurs almost exclusively in females. Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, GTR C0265267
especially absence deformity of limbs db key
GeneReviews nsdhl-dis
db key
MeSH D016113
html:p db key
OMIM 308050
db key
Orphanet 139
db key
html:p SNOMED CT 17608003
html:p
synonym-list db-key-list
Congenital hepatic fibrosis https://ghr.nlm.nih.gov/condition/congenital-hepatic-fibrosis Isolated congenital hepatic fibrosis is rare. Its prevalence is unknown. html:p autosomal dominant synonym congenital fibrose liver key 2017-12-29
The total prevalence of syndromes that include congenital hepatic fibrosis as a memo db-key C0009714
feature is estimated to be 1 in 10,000 to 20,000 individuals. autosomal recessive key
memo db-key hepatic-fibrosis
html:p X-linked recessive key
db-key D008107
key
79607001
html:p
html:p
html:p
html:p
related-gene-list
Congenital hyperinsulinism https://ghr.nlm.nih.gov/condition/congenital-hyperinsulinism Congenital hyperinsulinism affects approximately 1 in 50,000 newborns. This html:p autosomal dominant ABCC8 https://ghr.nlm.nih.gov/gene/ABCC8 hyperinsulinemia hypoglycemia of infancy db key 2014-01 2017-12-29
condition is more common in certain populations, affecting up to 1 in 2,500 memo related-gene gene-symbol ghr-page infancy hyperinsulinemia hypoglycemia GTR C0027773
newborns. autosomal recessive GCK https://ghr.nlm.nih.gov/gene/GCK neonatal hyperinsulinism db key
related-gene gene-symbol ghr-page persistent hyperinsulinemia hypoglycemia of infancy GTR C1257959
GLUD1 https://ghr.nlm.nih.gov/gene/GLUD1 persistent hyperinsulinemic hypoglycemia db key
related-gene gene-symbol ghr-page PHHI hypoglycemia GTR C1847555
HADH https://ghr.nlm.nih.gov/gene/HADH db key
related-gene gene-symbol ghr-page GTR C1864902
html:p HNF1A https://ghr.nlm.nih.gov/gene/HNF1A db key
related-gene gene-symbol ghr-page GTR C1864948
HNF4A https://ghr.nlm.nih.gov/gene/HNF4A db key
related-gene gene-symbol ghr-page GTR C1864952
KCNJ11 https://ghr.nlm.nih.gov/gene/KCNJ11 db key
related-gene gene-symbol ghr-page GTR C1865290
SLC16A1 https://ghr.nlm.nih.gov/gene/SLC16A1 db key
related-gene gene-symbol ghr-page GTR C3888018
UCP2 https://ghr.nlm.nih.gov/gene/UCP2 db key
GeneReviews hi
db key
ICD-10-CM E16.1
db key
MeSH D044903
db key
OMIM 256450
db key
OMIM 601820
db key
OMIM 602485
db key
OMIM 606762
db key
OMIM 609968
db key
OMIM 609975
db key
OMIM 610021
db key
Orphanet 657
db key
related-gene-list SNOMED CT 360339005
Congenital hypothyroidism https://ghr.nlm.nih.gov/condition/congenital-hypothyroidism Congenital hypothyroidism affects an estimated 1 in 2,000 to 4,000 html:p autosomal dominant DUOX2 https://ghr.nlm.nih.gov/gene/DUOX2 CH db key 2015-09 2017-12-29
newborns. For reasons that remain unclear, congenital hypothyroidism affects memo related-gene gene-symbol ghr-page CHT GTR C0010308
more than twice as many females as males. autosomal recessive DUOXA2 https://ghr.nlm.nih.gov/gene/DUOXA2 congenital myxedema db key
related-gene gene-symbol ghr-page cretinism GTR C0342196
IYD https://ghr.nlm.nih.gov/gene/IYD db key
related-gene gene-symbol ghr-page GTR C1291299
NKX2-5 https://ghr.nlm.nih.gov/gene/NKX2-5 db key
html:p related-gene gene-symbol ghr-page GTR C1563716
PAX8 https://ghr.nlm.nih.gov/gene/PAX8 db key
related-gene gene-symbol ghr-page GTR C1846632
SLC5A5 https://ghr.nlm.nih.gov/gene/SLC5A5 db key
related-gene gene-symbol ghr-page GTR C1848805
SLC26A4 https://ghr.nlm.nih.gov/gene/SLC26A4 db key
related-gene gene-symbol ghr-page GTR C3493776
TG https://ghr.nlm.nih.gov/gene/TG db key
related-gene gene-symbol ghr-page ICD-10-CM E03.0
THRA https://ghr.nlm.nih.gov/gene/THRA db key
related-gene gene-symbol ghr-page ICD-10-CM E03.1
TPO https://ghr.nlm.nih.gov/gene/TPO db key
html:p related-gene gene-symbol ghr-page ICD-10-CM E03.8
TRHR https://ghr.nlm.nih.gov/gene/TRHR db key
related-gene gene-symbol ghr-page ICD-10-CM E03.9
TSHB https://ghr.nlm.nih.gov/gene/TSHB db key
related-gene gene-symbol ghr-page MeSH D003409
TSHR https://ghr.nlm.nih.gov/gene/TSHR db key
OMIM 218700
db key
html:p OMIM 274400
db key
OMIM 274500
db key
OMIM 274900
db key
OMIM 275200
db key
OMIM 607200
db key
Orphanet 442
db key
SNOMED CT 190268003
db key
SNOMED CT 237515009
db key
SNOMED CT 278503003
db key
SNOMED CT 367524008
db key
SNOMED CT 64491003
db key
related-gene-list SNOMED CT 75065003
Congenital insensitivity to pain https://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain Congenital insensitivity to pain is a rare condition; about 20 cases have html:p autosomal recessive SCN9A https://ghr.nlm.nih.gov/gene/SCN9A asymbolia for pain db key 2012-11 2017-12-29
been reported in the scientific literature. channelopathy-associated insensitivity to pain GTR C1855739
CIP db key
congenital analgesia MeSH D000699
congenital indifference to pain db key
congenital pain indifference OMIM 243000
indifference to pain, congenital, autosomal recessive db key
pain insensitivity, congenital Orphanet 88642
db key
SNOMED CT 403605007
html:p
related-gene-list
Congenital insensitivity to pain with anhidrosis https://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain-with-anhidros CIPA is a rare condition; however, the prevalence is unknown. html:p autosomal recessive NTRK1 https://ghr.nlm.nih.gov/gene/NTRK1 CIPA db key 2011-05 2017-12-29
is hereditary insensitivity to pain with anhidrosis GTR C0020074
hereditary sensory and autonomic neuropathy type IV db key
hereditary sensory and autonomic neuropathy, type 4 GeneReviews hsan4
HSAN type IV db key
HSAN4 MeSH D009477
html:p db key
OMIM 256800
db key
Orphanet 642
db key
SNOMED CT 62985007
html:p
html:p
related-gene-list
Congenital leptin deficiency https://ghr.nlm.nih.gov/condition/congenital-leptin-deficiency Congenital leptin deficiency is a rare disorder. Only a few dozen cases html:p autosomal recessive LEP https://ghr.nlm.nih.gov/gene/LEP LEPD db key 2013-12 2017-12-29
have been reported in the medical literature. leptin deficiency GTR C3554224
obesity due to congenital leptin deficiency db key
obesity, morbid, due to leptin deficiency MeSH D009767
obesity, morbid, nonsyndromic 1 db key
obesity, severe, due to leptin deficiency OMIM 614962
db key
html:p Orphanet 66628
db key
SNOMED CT 700150001
related-gene-list
Congenital mirror movement disorder https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder Congenital mirror movement disorder is a very rare disorder. Its prevalence html:p autosomal dominant DCC https://ghr.nlm.nih.gov/gene/DCC bimanual synergia db key 2015-04 2017-12-29
is thought to be less than 1 in 1 million. Researchers suggest that some mildly memo related-gene gene-symbol ghr-page bimanual synkinesis GTR CN201638
affected individuals may never be diagnosed. autosomal recessive RAD51 https://ghr.nlm.nih.gov/gene/RAD51 CMM db key
congenital mirror movements GeneReviews mirror
mirror movements db key
MeSH D009069
db key
OMIM 157600
html:p db key
OMIM 614508
db key
Orphanet 238722
html:p db key
SNOMED CT 229247004
html:p
related-gene-list
Congenital myasthenic syndrome https://ghr.nlm.nih.gov/condition/congenital-myasthenic-syndrome The prevalence of congenital myasthenic syndrome is unknown. At least 600 html:p autosomal dominant AGRN https://ghr.nlm.nih.gov/gene/AGRN CMS db key 2011-11 2017-12-29
families with affected individuals have been described in the scientific memo related-gene gene-symbol ghr-page congenital myasthenia GTR C0393929
literature. autosomal recessive CHAT https://ghr.nlm.nih.gov/gene/CHAT congenital myasthenic syndromes db key
related-gene gene-symbol ghr-page GTR C0751882
CHRNA1 https://ghr.nlm.nih.gov/gene/CHRNA1 db key
related-gene gene-symbol ghr-page GTR C0751885
CHRNB1 https://ghr.nlm.nih.gov/gene/CHRNB1 db key
related-gene gene-symbol ghr-page GTR C1837091
CHRND https://ghr.nlm.nih.gov/gene/CHRND db key
related-gene gene-symbol ghr-page GTR C1837122
CHRNE https://ghr.nlm.nih.gov/gene/CHRNE db key
html:p related-gene gene-symbol ghr-page GTR C1850792
COLQ https://ghr.nlm.nih.gov/gene/COLQ db key
related-gene gene-symbol ghr-page GTR C1864233
DOK7 https://ghr.nlm.nih.gov/gene/DOK7 db key
related-gene gene-symbol ghr-page GTR C3502630
GFPT1 https://ghr.nlm.nih.gov/gene/GFPT1 db key
related-gene gene-symbol ghr-page GTR CN119608
MUSK https://ghr.nlm.nih.gov/gene/MUSK db key
related-gene gene-symbol ghr-page GTR CN228621
PLEC https://ghr.nlm.nih.gov/gene/PLEC db key
related-gene gene-symbol ghr-page GeneReviews cms
RAPSN https://ghr.nlm.nih.gov/gene/RAPSN db key
related-gene gene-symbol ghr-page ICD-10-CM G70.2
SCN4A https://ghr.nlm.nih.gov/gene/SCN4A db key
MeSH D020294
db key
OMIM 254210
db key
OMIM 254300
db key
OMIM 601462
db key
OMIM 603034
db key
OMIM 608930
db key
OMIM 608931
db key
OMIM 610542
db key
OMIM 614198
db key
OMIM 614198
db key
Orphanet 590
db key
SNOMED CT 230670003
db key
related-gene-list SNOMED CT 230672006
Congenital nephrotic syndrome https://ghr.nlm.nih.gov/condition/congenital-nephrotic-syndrome Congenital nephrotic syndrome affects 1 to 3 per 100,000 children html:p autosomal recessive LAMB2 https://ghr.nlm.nih.gov/gene/LAMB2 familial nephrotic syndrome db key 2016-07 2017-12-29
worldwide. In Finland, where this condition is particularly common, congenital related-gene gene-symbol ghr-page GTR C0403399
nephrotic syndrome is estimated to affect 1 in 10,000 children. NPHS1 https://ghr.nlm.nih.gov/gene/NPHS1 db key
related-gene gene-symbol ghr-page GTR CN043611
html:p NPHS2 https://ghr.nlm.nih.gov/gene/NPHS2 db key
related-gene gene-symbol ghr-page ICD-10-CM N04
PLCE1 https://ghr.nlm.nih.gov/gene/PLCE1 db key
related-gene gene-symbol ghr-page MeSH D009404
WT1 https://ghr.nlm.nih.gov/gene/WT1 db key
OMIM 256300
db key
OMIM 600995
db key
Orphanet 839
html:p db key
SNOMED CT 48796009
related-gene-list
Congenital plasminogen deficiency https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency The prevalence of congenital plasminogen deficiency has been estimated at html:p autosomal recessive PLG https://ghr.nlm.nih.gov/gene/PLG hypoplasminogenemia db key 2012-08 2017-12-29
1.6 per one million people. This condition is believed to be underdiagnosed, plasminogen deficiency, type I GTR C1968804
because growths in one area are often not recognized as being a feature of a db key
disorder that affects many body systems. Mild cases likely never come to medical ICD-10-CM H10.51
attention. db key
html:p ICD-10-CM H10.511
db key
ICD-10-CM H10.512
db key
ICD-10-CM H10.513
db key
ICD-10-CM H10.519
db key
MeSH D020147
db key
OMIM 217090
db key
html:p Orphanet 722
db key
Orphanet 97231
db key
SNOMED CT 403435005
db key
SNOMED CT 95841006
related-gene-list
Congenital stromal corneal dystrophy https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy Congenital stromal corneal dystrophy is probably very rare; only a few html:p autosomal dominant DCN https://ghr.nlm.nih.gov/gene/DCN congenital hereditary stromal dystrophy of the cornea db key 2009-08 2017-12-29
affected families have been reported in the medical literature. congenital stromal dystrophy of the cornea GTR C1864738
corneal dystrophy, congenital stromal db key
CSCD GeneReviews csc-dys
DACS db key
decorin-associated congenital stromal corneal dystrophy MeSH D003317
dystrophia corneae parenchymatosa congenita db key
OMIM 610048
db key
Orphanet 101068
db key
related-gene-list SNOMED CT 702359002
Congenital sucrase-isomaltase deficiency https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency The prevalence of congenital sucrase-isomaltase deficiency is estimated to html:p autosomal recessive SI https://ghr.nlm.nih.gov/gene/SI congenital sucrose intolerance db key 2008-07 2017-12-29
be 1 in 5,000 people of European descent. This condition is much more prevalent congenital sucrose-isomaltose malabsorption GTR C1283620
in the native populations of Greenland, Alaska, and Canada, where as many as 1 CSID db key
in 20 people may be affected. disaccharide intolerance I ICD-10-CM E74.31
SI deficiency db key
sucrase-isomaltase deficiency MeSH D002239
db key
OMIM 222900
db key
Orphanet 35122
html:p db key
SNOMED CT 78373000
related-gene-list
Core binding factor acute myeloid leukemia https://ghr.nlm.nih.gov/condition/core-binding-factor-acute-myeloid-leukemia Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals html:p not inherited CBFB https://ghr.nlm.nih.gov/gene/CBFB CBF acute myeloid leukemia db key 2013-11 2017-12-29
each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases related-gene gene-symbol ghr-page CBF-AML GTR C0023467
in adults. FLT3 https://ghr.nlm.nih.gov/gene/FLT3 core-binding factor AML db key
related-gene gene-symbol ghr-page MeSH D015470
KIT https://ghr.nlm.nih.gov/gene/KIT db key
related-gene gene-symbol ghr-page OMIM 601626
KRAS https://ghr.nlm.nih.gov/gene/KRAS db key
related-gene gene-symbol ghr-page Orphanet 519
MYH11 https://ghr.nlm.nih.gov/gene/MYH11 db key
related-gene gene-symbol ghr-page SNOMED CT 702446006
NRAS https://ghr.nlm.nih.gov/gene/NRAS
related-gene gene-symbol ghr-page
html:p RUNX1 https://ghr.nlm.nih.gov/gene/RUNX1
related-gene gene-symbol ghr-page
RUNX1T1 https://ghr.nlm.nih.gov/gene/RUNX1T1
related-chromosome name ghr-page
8 https://ghr.nlm.nih.gov/chromosome/8
related-chromosome name ghr-page
html:p 16 https://ghr.nlm.nih.gov/chromosome/16
related-chromosome name ghr-page
21 https://ghr.nlm.nih.gov/chromosome/21
related-gene-list
Cornelia de Lange syndrome https://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome Although the exact incidence is unknown, Cornelia de Lange syndrome likely html:p autosomal dominant HDAC8 https://ghr.nlm.nih.gov/gene/HDAC8 BDLS db key 2015-09 2017-12-29
affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed memo related-gene gene-symbol ghr-page Brachmann-de Lange syndrome GTR C0270972
because affected individuals with mild or uncommon features may never be X-linked recessive NIPBL https://ghr.nlm.nih.gov/gene/NIPBL CdLS db key
recognized as having Cornelia de Lange syndrome. html:p related-gene gene-symbol ghr-page de Lange syndrome GTR CN239271
RAD21 https://ghr.nlm.nih.gov/gene/RAD21 typus degenerativus amstelodamensis db key
related-gene gene-symbol ghr-page GeneReviews cdls
SMC1A https://ghr.nlm.nih.gov/gene/SMC1A db key
related-gene gene-symbol ghr-page MeSH D003635
SMC3 https://ghr.nlm.nih.gov/gene/SMC3 db key
OMIM 122470
db key
html:p OMIM 300590
db key
OMIM 300882
db key
OMIM 610759
db key
OMIM 614701
db key
Orphanet 199
db key
related-gene-list SNOMED CT 40354009
Corticosteroid-binding globulin deficiency https://ghr.nlm.nih.gov/condition/corticosteroid-binding-globulin-deficiency The prevalence of corticosteroid-binding globulin deficiency is unknown, html:p autosomal recessive SERPINA6 https://ghr.nlm.nih.gov/gene/SERPINA6 CBG deficiency db key 2014-03 2017-12-29
but it is thought to be a rare disorder. However, because some people with the transcortin deficiency GTR C1852529
disorder have mild or no symptoms, it is likely that corticosteroid-binding db key
globulin deficiency is underdiagnosed. MeSH D030342
db key
OMIM 611489
html:p db key
SNOMED CT 237768001
html:p
related-gene-list
Corticosterone methyloxidase deficiency https://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency Corticosterone methyloxidase deficiency is a rare disorder; its prevalence html:p autosomal recessive CYP11B2 https://ghr.nlm.nih.gov/gene/CYP11B2 18-hydroxylase deficiency db key 2013-11 2017-12-29
is unknown. Researchers have described two types of the condition: Type I is 18-oxidase deficiency GTR C3463917
more common in the Amish population of Lancaster, Pennsylvania, while type II is aldosterone deficiency db key
more common in people of Iranian Jewish ancestry. The two types have similar aldosterone deficiency due to deficiency of steroid 18-hydroxylase GTR CN074214
signs and symptoms but can be distinguished by laboratory testing. aldosterone deficiency due to deficiency of steroid 18-oxidase db key
aldosterone synthase deficiency MeSH D006994
CMO deficiency db key
html:p congenital hypoaldosteronism OMIM 203400
corticosterone 18-monooxygenase deficiency db key
corticosterone methyl oxidase deficiency OMIM 610600
familial hyperreninemic hypoaldosteronism db key
steroid 18-hydroxylase deficiency Orphanet 427
steroid 18-oxidase deficiency db key
Visser-Cost syndrome SNOMED CT 47757001
related-gene-list
Costeff syndrome https://ghr.nlm.nih.gov/condition/costeff-syndrome Costeff syndrome affects an estimated 1 in 10,000 individuals in the Iraqi html:p autosomal recessive OPA3 https://ghr.nlm.nih.gov/gene/OPA3 3-methylglutaconic aciduria type 3 db key 2014-07 2017-12-29
Jewish population, in which at least 40 cases have been described. Outside this 3-methylglutaconic aciduria type III GTR C0574084
population, only a few affected individuals have been identified. autosomal recessive OPA3 db key
autosomal recessive optic atrophy 3 GeneReviews mga3
Costeff optic atrophy syndrome db key
infantile optic atrophy with chorea and spastic paraplegia ICD-10-CM E71.111
Iraqi Jewish optic atrophy plus db key
html:p MGA, type III MeSH D008661
MGA3 db key
OPA3 defect OMIM 258501
optic atrophy plus syndrome db key
Orphanet 67047
html:p db key
SNOMED CT 297232009
html:p
related-gene-list
Costello syndrome https://ghr.nlm.nih.gov/condition/costello-syndrome This condition is very rare; it probably affects 200 to 300 people html:p autosomal dominant HRAS https://ghr.nlm.nih.gov/gene/HRAS faciocutaneoskeletal syndrome db key 2012-07 2017-12-29
worldwide. Reported estimates of Costello syndrome prevalence range from 1 in FCS syndrome GTR C0587248
300,000 to 1 in 1.25 million people. db key
GeneReviews costello
db key
MeSH D056685
db key
OMIM 218040
db key
Orphanet 3071
db key
SNOMED CT 309776008
html:p
html:p
inheritance-pattern-list related-gene-list
Cowden syndrome https://ghr.nlm.nih.gov/condition/cowden-syndrome Although the exact prevalence of Cowden syndrome is unknown, researchers html:p ad autosomal dominant ghr-page CD db-key db key 2012-10 2017-12-29
estimate that it affects about 1 in 200,000 people. related-gene https://ghr.nlm.nih.gov/gene/KLLN Cowden disease GTR C0018553
html:p ghr-page Cowden's disease db-key db key
related-gene https://ghr.nlm.nih.gov/gene/PTEN Cowden's syndrome GTR C3552552
ghr-page CS db-key db key
related-gene https://ghr.nlm.nih.gov/gene/SDHB MHAM GTR CN072330
ghr-page multiple hamartoma syndrome db-key db key
html:p https://ghr.nlm.nih.gov/gene/SDHD GeneReviews phts
db-key db key
ICD-10-CM Q85.8
db-key db key
MeSH D006223
db-key db key
OMIM 158350
db-key db key
OMIM 612359
db-key db key
Orphanet 201
html:p db-key db key
Orphanet 65285
db-key db key
SNOMED CT 58037000
html:p
related-gene-list
Cranioectodermal dysplasia https://ghr.nlm.nih.gov/condition/cranioectodermal-dysplasia Cranioectodermal dysplasia is a rare condition with an unknown prevalence. html:p autosomal recessive IFT43 https://ghr.nlm.nih.gov/gene/IFT43 CED db key 2013-11 2017-12-29
Approximately 40 cases of this condition have been described in the medical related-gene gene-symbol ghr-page Sensenbrenner syndrome GTR C0432235
literature. IFT122 https://ghr.nlm.nih.gov/gene/IFT122 db key
related-gene gene-symbol ghr-page GTR C3150874
WDR19 https://ghr.nlm.nih.gov/gene/WDR19 db key
html:p related-gene gene-symbol ghr-page GTR C3279807
WDR35 https://ghr.nlm.nih.gov/gene/WDR35 db key
GTR C3280616
db key
GeneReviews ce-dysp
db key
MeSH D000015
db key
html:p MeSH D004476
db key
OMIM 218330
db key
OMIM 613610
db key
html:p OMIM 614099
db key
OMIM 614378
html:p db key
Orphanet 1515
db key
SNOMED CT 254093009
related-gene-list
Craniofacial-deafness-hand syndrome https://ghr.nlm.nih.gov/condition/craniofacial-deafness-hand-syndrome Craniofacial-deafness-hand syndrome is an extremely rare condition. Only a html:p autosomal dominant PAX3 https://ghr.nlm.nih.gov/gene/PAX3 CDHS db key 2012-08 2017-12-29
few cases have been reported in the scientific literature. GTR C1852510
html:p db key
MeSH D006319
db key
MeSH D019465
db key
OMIM 122880
db key
Orphanet 1529
html:p db key
SNOMED CT 702362004
html:p
synonym-list db-key-list
Craniofacial microsomia https://ghr.nlm.nih.gov/condition/craniofacial-microsomia Craniofacial microsomia has been estimated to occur in between 1 in 5,600 html:p autosomal dominant synonym auriculobranchiogenic dysplasia key 2017-12-29
and 1 in 26,550 newborns. However, this range may be an underestimate because memo synonym CFM db-key C0265240
not all medical professionals agree on the criteria for diagnosis of this autosomal recessive synonym facioauriculovertebral dysplasia key
condition, and because mild cases may never come to medical attention. For synonym FAV db-key m-hfm-ov
reasons that are unclear, the disorder occurs about 50 percent more often in synonym first and second branchial arch syndrome key
males than in females. synonym first and second pharyngeal arch syndromes db-key D006053
synonym Goldenhar-Gorlin syndrome key
synonym Goldenhar syndrome db-key D019465
synonym hemifacial microsomia key
synonym HFM db-key 164210
synonym lateral facial dysplasia key
synonym OAV complex db-key 374
html:p synonym OAVS key
synonym oculoauriculovertebral spectrum db-key 109393007
synonym oral-mandibular-auricular syndrome key
synonym otomandibular dysostosis db-key 205418005
synonym unilateral intrauterine facial necrosis key
synonym unilateral mandibulofacial dysostosis db-key 254025006
key
html:p db-key 254026007
key
db-key 367462009
html:p key
703973009
related-gene-list
Craniometaphyseal dysplasia https://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia Craniometaphyseal dysplasia is a very rare disorder; its incidence is html:p autosomal dominant ANKH https://ghr.nlm.nih.gov/gene/ANKH Autosomal dominant craniometaphyseal dysplasia db key 2009-02 2017-12-29
unknown. memo Autosomal recessive craniometaphyseal dysplasia GTR C1852502
autosomal recessive CMD db key
CMDD GTR C1857496
html:p CMDJ db key
CMDR GeneReviews cranio-md
Craniometaphyseal dysplasia, Jackson type db key
MeSH D009139
db key
OMIM 123000
db key
Orphanet 1522
db key
SNOMED CT 254134004
html:p db key
SNOMED CT 254135003
db key
html:p SNOMED CT 36601008
related-gene-list
Cri-du-chat syndrome https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. html:p not inherited CTNND2 https://ghr.nlm.nih.gov/gene/CTNND2 5p deletion syndrome db key 2014-02 2017-12-29
This condition is found in people of all ethnic backgrounds. related-chromosome name ghr-page 5p- syndrome GTR C0010314
5 https://ghr.nlm.nih.gov/chromosome/5 cat cry syndrome db key
chromosome 5p- syndrome ICD-10-CM Q93.4
monosomy 5p db key
MeSH D003410
db key
OMIM 123450
db key
Orphanet 281
db key
related-gene-list SNOMED CT 70173007
Crigler-Najjar syndrome https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome Crigler-Najjar syndrome is estimated to affect fewer than 1 in 1 million html:p autosomal recessive UGT1A1 https://ghr.nlm.nih.gov/gene/UGT1A1 Crigler Najjar syndrome db key 2012-02 2017-12-29
newborns worldwide. familial nonhemolytic unconjugated hyperbilirubinemia GTR C0010324
hereditary unconjugated hyperbilirubinemia db key
GTR C2931132
db key
GTR CN119421
db key
ICD-10-CM E80.5
html:p db key
MeSH D003414
db key
OMIM 218800
db key
OMIM 606785
db key
Orphanet 205
db key
Orphanet 79234
html:p db key
Orphanet 79235
db key
SNOMED CT 28259009
db key
SNOMED CT 68067009
db key
related-gene-list SNOMED CT 8933000
Critical congenital heart disease https://ghr.nlm.nih.gov/condition/critical-congenital-heart-disease s are the most common type of birth defect, accounting for more html:p pattern unknown CFC1 https://ghr.nlm.nih.gov/gene/CFC1 CCHD db key 2017-11 2017-12-29
than 30 percent of all infant deaths due to birth defects. CCHD represents some related-gene gene-symbol ghr-page critical congenital s GTR C0013481
of the most serious types of s. About 7,200 newborns, or 18 per FOXH1 https://ghr.nlm.nih.gov/gene/FOXH1 db key
10,000, in the United States are diagnosed with CCHD each year. related-gene gene-symbol ghr-page GTR C0039685
GATA4 https://ghr.nlm.nih.gov/gene/GATA4 db key
related-gene gene-symbol ghr-page GTR C0040761
GATA6 https://ghr.nlm.nih.gov/gene/GATA6 db key
related-gene gene-symbol ghr-page GTR C0041207
html:p GDF1 https://ghr.nlm.nih.gov/gene/GDF1 db key
related-gene gene-symbol ghr-page GTR C0152021
GJA1 https://ghr.nlm.nih.gov/gene/GJA1 db key
related-gene gene-symbol ghr-page GTR C0152101
HAND1 https://ghr.nlm.nih.gov/gene/HAND1 db key
related-gene gene-symbol ghr-page GTR C0243002
MED13L https://ghr.nlm.nih.gov/gene/MED13L db key
related-gene gene-symbol ghr-page GTR C0344975
html:p NKX2-5 https://ghr.nlm.nih.gov/gene/NKX2-5 db key
related-gene gene-symbol ghr-page GTR C0344976
NKX2-6 https://ghr.nlm.nih.gov/gene/NKX2-6 db key
related-gene gene-symbol ghr-page GTR C3151220
NOTCH1 https://ghr.nlm.nih.gov/gene/NOTCH1 db key
html:p related-gene gene-symbol ghr-page GTR C3151221
SMAD6 https://ghr.nlm.nih.gov/gene/SMAD6 db key
related-gene gene-symbol ghr-page GTR C3280795
ZFPM2 https://ghr.nlm.nih.gov/gene/ZFPM2 db key
ICD-10-CM Q20.1
db key
ICD-10-CM Q21.3
html:p db key
ICD-10-CM Q22.0
db key
ICD-10-CM Q22.4
db key
ICD-10-CM Q22.5
db key
ICD-10-CM Q23.4
db key
ICD-10-CM Q25.1
db key
MeSH D006330
db key
OMIM 106700
db key
OMIM 120000
db key
OMIM 178370
db key
OMIM 187500
db key
OMIM 217095
db key
OMIM 224700
db key
OMIM 241550
db key
OMIM 265150
db key
OMIM 605067
db key
OMIM 605376
db key
OMIM 608808
db key
OMIM 613854
db key
OMIM 614435
db key
Orphanet 1207
db key
Orphanet 1208
db key
Orphanet 1209
db key
Orphanet 2248
db key
Orphanet 3303
db key
Orphanet 3384
db key
SNOMED CT 17394001
db key
SNOMED CT 204296002
db key
SNOMED CT 204354004
db key
SNOMED CT 204357006
db key
SNOMED CT 218728005
db key
SNOMED CT 253443005
db key
SNOMED CT 253590009
db key
SNOMED CT 253591008
db key
SNOMED CT 26146002
db key
SNOMED CT 39905002
db key
SNOMED CT 399228007
db key
SNOMED CT 443379009
db key
SNOMED CT 447832002
db key
SNOMED CT 447914003
db key
SNOMED CT 448599000
db key
SNOMED CT 448794008
db key
SNOMED CT 45503006
db key
SNOMED CT 61959006
db key
SNOMED CT 62067003
db key
SNOMED CT 63042009
db key
SNOMED CT 719955006
db key
SNOMED CT 7305005
db key
SNOMED CT 7484005
db key
related-gene-list SNOMED CT 86299006
Crohn disease https://ghr.nlm.nih.gov/condition/crohn-disease Crohn disease is most common in western Europe and North America, where it html:p pattern unknown ATG16L1 https://ghr.nlm.nih.gov/gene/ATG16L1 colitis, granulomatous db key 2017-12 2017-12-29
has a prevalence of 100 to 300 per 100,000 people. More than half a million related-gene gene-symbol ghr-page Crohn's disease GTR C0678202
Americans are currently affected by this disorder. Crohn disease occurs more HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 Crohn's enteritis db key
often in people of northern European ancestry and those of eastern and central related-gene gene-symbol ghr-page enteritis, granulomatous GTR CN043071
European (Ashkenazi) Jewish descent than among people of other ethnic IL10 https://ghr.nlm.nih.gov/gene/IL10 enteritis, regional db key
backgrounds. For reasons that are not clear, the prevalence of Crohn disease has related-gene gene-symbol ghr-page ICD-10-CM K50
been increasing in the United States and some other parts of the world. IL12B https://ghr.nlm.nih.gov/gene/IL12B db key
related-gene gene-symbol ghr-page ICD-10-CM K50.0
html:p IL23R https://ghr.nlm.nih.gov/gene/IL23R db key
related-gene gene-symbol ghr-page ICD-10-CM K50.00
IRGM https://ghr.nlm.nih.gov/gene/IRGM db key
related-gene gene-symbol ghr-page ICD-10-CM K50.01
JAK2 https://ghr.nlm.nih.gov/gene/JAK2 db key
related-gene gene-symbol ghr-page ICD-10-CM K50.1
LRRK2 https://ghr.nlm.nih.gov/gene/LRRK2 db key
related-gene gene-symbol ghr-page ICD-10-CM K50.8
html:p MUC2 https://ghr.nlm.nih.gov/gene/MUC2 db key
related-gene gene-symbol ghr-page ICD-10-CM K50.9
NOD2 https://ghr.nlm.nih.gov/gene/NOD2 db key
related-gene gene-symbol ghr-page ICD-10-CM K50.10
SLC22A4 https://ghr.nlm.nih.gov/gene/SLC22A4 db key
related-gene gene-symbol ghr-page ICD-10-CM K50.011
SLC22A5 https://ghr.nlm.nih.gov/gene/SLC22A5 db key
html:p related-gene gene-symbol ghr-page ICD-10-CM K50.11
STAT3 https://ghr.nlm.nih.gov/gene/STAT3 db key
related-gene gene-symbol ghr-page ICD-10-CM K50.012
TYK2 https://ghr.nlm.nih.gov/gene/TYK2 db key
ICD-10-CM K50.013
db key
ICD-10-CM K50.014
db key
ICD-10-CM K50.018
db key
ICD-10-CM K50.019
db key
ICD-10-CM K50.80
db key
ICD-10-CM K50.81
db key
ICD-10-CM K50.90
db key
ICD-10-CM K50.91
db key
ICD-10-CM K50.111
db key
ICD-10-CM K50.112
db key
ICD-10-CM K50.113
db key
ICD-10-CM K50.114
db key
ICD-10-CM K50.118
db key
ICD-10-CM K50.119
db key
ICD-10-CM K50.811
db key
ICD-10-CM K50.812
db key
ICD-10-CM K50.813
db key
ICD-10-CM K50.814
db key
ICD-10-CM K50.818
db key
ICD-10-CM K50.819
db key
ICD-10-CM K50.911
db key
ICD-10-CM K50.912
db key
ICD-10-CM K50.913
db key
ICD-10-CM K50.914
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ICD-10-CM K50.918
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ICD-10-CM K50.919
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MeSH D003424
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OMIM 191390
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OMIM 266600
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OMIM 601458
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OMIM 604519
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OMIM 605225
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OMIM 606348
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OMIM 606668
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OMIM 606674
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OMIM 606675
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OMIM 608448
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OMIM 611081
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OMIM 612241
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OMIM 612244
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OMIM 612245
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OMIM 612255
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OMIM 612259
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OMIM 612261
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OMIM 612262
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OMIM 612278
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OMIM 612288
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OMIM 612354
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OMIM 612380
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OMIM 612381
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OMIM 612566
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OMIM 612567
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OMIM 612796
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OMIM 613148
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Orphanet 206
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SNOMED CT 34000006
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SNOMED CT 38106008
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SNOMED CT 50440006
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related-gene-list SNOMED CT 52457000
Crouzon syndrome https://ghr.nlm.nih.gov/condition/crouzon-syndrome Crouzon syndrome is seen in about 16 per million newborns. It is the most html:p autosomal dominant FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 Craniofacial dysarthrosis db key 2008-02 2017-12-29
common craniosynostosis syndrome. Craniofacial Dysostosis GTR C0010273
Craniofacial dysostosis syndrome db key
html:p Craniofacial dysostosis, type 1; CFD1 GeneReviews craniosynostosis
Crouzon craniofacial dysostosis db key
Crouzon's Disease ICD-10-CM Q75.1
Crouzons Disease db key
MeSH D003394
db key
OMIM 123500
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Orphanet 207
db key
related-gene-list SNOMED CT 28861008
Crouzon syndrome with acanthosis nigricans https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans Crouzon syndrome with acanthosis nigricans is rare; this condition occurs html:p autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 CAN db key 2017-03 2017-12-29
in about 1 person per million. For unknown reasons, it affects females more than Crouzonodermoskeletal syndrome GTR C2677099
twice as often as males. db key
html:p GeneReviews craniosynostosis
db key
ICD-10-CM Q75.1
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MeSH D000052
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MeSH D003394
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MeSH D003398
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html:p OMIM 612247
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Orphanet 93262
db key
SNOMED CT 702361006
related-gene-list
Cryptogenic cirrhosis https://ghr.nlm.nih.gov/condition/cryptogenic-cirrhosis Cirrhosis affects more than 600,000 people in the United States; html:p autosomal dominant KRT8 https://ghr.nlm.nih.gov/gene/KRT8 cirrhosis, cryptogenic db key 2016-03 2017-12-29
cryptogenic cirrhosis likely accounts for 5 to 30 percent of these cases. memo related-gene gene-symbol ghr-page GTR C0267809
not inherited KRT18 https://ghr.nlm.nih.gov/gene/KRT18 db key
html:p memo GTR C1861556
pattern unknown db key
ICD-10-CM K74.69
db key
html:p MeSH D008103
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OMIM 215600
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SNOMED CT 89580002
html:p
synonym-list db-key-list
Cushing disease https://ghr.nlm.nih.gov/condition/cushing-disease Cushing disease is estimated to occur in 10 to 15 per million people html:p pattern unknown synonym pituitary ACTH hypersecretion key 2017-12-29
worldwide. For reasons that are unclear, Cushing disease affects females more synonym pituitary Cushing syndrome db-key C0221406
often than males. synonym pituitary-dependant Cushing syndrome key
synonym pituitary-dependant hypercortisolism db-key E24.0
synonym pituitary-dependant hypercortisolism disorder key
db-key D047748
key
db-key 219090
key
db-key 96253
key
db-key 190502001
key
db-key 237734007
key
88803002
related-gene-list
Cutis laxa https://ghr.nlm.nih.gov/condition/cutis-laxa Cutis laxa is a rare disorder. About 200 affected families worldwide have html:p autosomal dominant ALDH18A1 https://ghr.nlm.nih.gov/gene/ALDH18A1 dermatolysis db key 2017-03 2017-12-29
been reported. memo related-gene gene-symbol ghr-page dermatomegaly GTR C0268350
autosomal recessive ATP6V0A2 https://ghr.nlm.nih.gov/gene/ATP6V0A2 db key
html:p memo related-gene gene-symbol ghr-page GTR C0268351
X-linked recessive ATP7A https://ghr.nlm.nih.gov/gene/ATP7A db key
related-gene gene-symbol ghr-page GTR C0268353
EFEMP2 https://ghr.nlm.nih.gov/gene/EFEMP2 db key
related-gene gene-symbol ghr-page GTR C0268355
html:p ELN https://ghr.nlm.nih.gov/gene/ELN db key
related-gene gene-symbol ghr-page GeneReviews cutis-laxa
FBLN5 https://ghr.nlm.nih.gov/gene/FBLN5 db key
related-gene gene-symbol ghr-page GeneReviews efemp2-cutis-laxa
LTBP4 https://ghr.nlm.nih.gov/gene/LTBP4 db key
related-gene gene-symbol ghr-page GeneReviews fbln5-cutis-laxa
PYCR1 https://ghr.nlm.nih.gov/gene/PYCR1 db key
GeneReviews menkes
db key
MeSH D003483
html:p db key
OMIM 123700
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OMIM 219100
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OMIM 219150
db key
html:p OMIM 219200
db key
OMIM 304150
db key
OMIM 612940
db key
OMIM 613177
db key
OMIM 614100
db key
OMIM 614434
db key
OMIM 614437
db key
OMIM 614438
db key
OMIM 616603
db key
Orphanet 209
db key
Orphanet 228285
db key
SNOMED CT 58588007
db key
SNOMED CT 59399004
db key
SNOMED CT 59451000
db key
related-gene-list SNOMED CT 73856006
Cyclic neutropenia https://ghr.nlm.nih.gov/condition/cyclic-neutropenia Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 html:p autosomal dominant ELANE https://ghr.nlm.nih.gov/gene/ELANE cyclic hematopoesis db key 2017-09 2017-12-29
million individuals worldwide. cyclic leucopenia GTR C0221023
periodic neutropenia db key
GeneReviews cyclic-n
db key
ICD-10-CM D70.4
db key
html:p MeSH D009503
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OMIM 162800
db key
Orphanet 2686
db key
SNOMED CT 191347008
related-gene-list
Cyclic vomiting syndrome https://ghr.nlm.nih.gov/condition/cyclic-vomiting-syndrome The exact prevalence of cyclic vomiting syndrome is unknown; estimates html:p mitochondrial mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna abdominal migraine db key 2014-03 2017-12-29
range from 4 to 2,000 per 100,000 children. The condition is diagnosed less memo CVS GTR C0152164
frequently in adults, although recent studies suggest that the condition may pattern unknown cyclical vomiting db key
begin in adulthood as commonly as it begins in childhood. html:p cyclical vomiting syndrome ICD-10-CM G43.A
periodic vomiting db key
ICD-10-CM G43.A0
db key
ICD-10-CM G43.A1
db key
MeSH D014839
db key
html:p OMIM 500007
db key
SNOMED CT 18773000
html:p
html:p
html:p
related-gene-list
Cystic fibrosis https://ghr.nlm.nih.gov/condition/cystic-fibrosis Cystic fibrosis is a common genetic disease within the white population in html:p autosomal recessive CFTR https://ghr.nlm.nih.gov/gene/CFTR CF db key 2012-08 2017-12-29
the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. cystic fibrosis of pancreas GTR C0010674
Cystic fibrosis is less common in other ethnic groups, affecting about 1 in fibrocystic disease of pancreas db key
17,000 African Americans and 1 in 31,000 Asian Americans. mucoviscidosis GeneReviews cf
db key
html:p ICD-10-CM E84
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ICD-10-CM E84.0
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ICD-10-CM E84.1
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ICD-10-CM E84.8
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html:p ICD-10-CM E84.9
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ICD-10-CM E84.11
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ICD-10-CM E84.19
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ICD-10-CM Z14.1
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MeSH D003550
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OMIM 219700
html:p db key
Orphanet 586
db key
SNOMED CT 190905008
db key
SNOMED CT 235978006
db key
SNOMED CT 86555001
related-gene-list
Cystinosis https://ghr.nlm.nih.gov/condition/cystinosis Cystinosis affects approximately 1 in 100,000 to 200,000 newborns html:p autosomal recessive CTNS https://ghr.nlm.nih.gov/gene/CTNS cystine storage disease db key 2013-05 2017-12-29
worldwide. The incidence is higher in the province of Brittany, France, where GTR C0010690
the disorder affects 1 in 26,000 individuals. db key
GTR C0268626
db key
html:p GTR C1857413
db key
GeneReviews ctns
html:p db key
ICD-10-CM E72.04
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MeSH D003554
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OMIM 219750
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OMIM 219800
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OMIM 219900
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Orphanet 213
db key
SNOMED CT 190681003
db key
html:p SNOMED CT 22830006
db key
SNOMED CT 236466005
html:p
related-gene-list
Cystinuria https://ghr.nlm.nih.gov/condition/cystinuria Cystinuria affects approximately 1 in 10,000 people. html:p autosomal recessive SLC3A1 https://ghr.nlm.nih.gov/gene/SLC3A1 CSNU db key 2014-06 2017-12-29
related-gene gene-symbol ghr-page GTR C0010691
SLC7A9 https://ghr.nlm.nih.gov/gene/SLC7A9 db key
ICD-10-CM E72.01
db key
html:p MeSH D003555
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OMIM 220100
db key
Orphanet 214
db key
SNOMED CT 85020001
inheritance-pattern-list
Cytochrome c oxidase deficiency https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency In Eastern Europe, cytochrome c oxidase deficiency is estimated to occur in html:p ar autosomal recessive gene-symbol synonym complex IV deficiency db-key db key 2012-10 2017-12-29
1 in 35,000 individuals. The prevalence of this condition outside this region inheritance-pattern code memo COA5 synonym COX deficiency GTR C0268237
is unknown. m mitochondrial gene-symbol synonym cytochrome-c oxidase deficiency db-key db key
COX6B1 synonym mitochondrial complex IV deficiency GTR C1858424
html:p gene-symbol db-key db key
COX10 MeSH D030401
gene-symbol db-key db key
COX14 OMIM 220110
gene-symbol db-key db key
COX15 OMIM 604377
gene-symbol db-key db key
oxidase deficiency have a buildup of a chemical called lactic acid in the body FASTKD2 Orphanet 1561
(lactic acidosis), which can cause nausea and an irregular heart rate, and can gene-symbol db-key db key
be life-threatening. LRPPRC Orphanet 254905
html:p gene-symbol db-key db key
MT-CO1 SNOMED CT 67434000
gene-symbol
MT-CO2
gene-symbol
html:p MT-CO3
gene-symbol
SCO1
gene-symbol
SCO2
gene-symbol
SURF1
gene-symbol
TACO1
name
related-gene-list mitochondrial DNA
Cytochrome P450 oxidoreductase deficiency https://ghr.nlm.nih.gov/condition/cytochrome-p450-oxidoreductase-deficiency The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. html:p autosomal recessive POR https://ghr.nlm.nih.gov/gene/POR Antley-Bixler syndrome db key 2014-03 2017-12-29
About 65 cases have been reported worldwide.Researchers suspect that cytochrome Antley-Bixler syndrome-like phenotype with disordered steroidogenesis GTR C1860042
P450 oxidoreductase deficiency is underdiagnosed and that mild cases of this Antley-Bixler syndrome with disordered steroidogenesis db key
disorder may be relatively common. Because the signs and symptoms can be combined partial deficiency of 17-hydroxylase and 21-hydroxylase GeneReviews abs
difficult to detect, people with mild cytochrome P450 oxidoreductase deficiency congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 db key
may never come to medical attention. deficiency MeSH D054882
html:p POR deficiency db key
PORD OMIM 201750
db key
Orphanet 63269
db key
SNOMED CT 62964007
html:p
html:p
html:p
related-gene-list
Cytogenetically normal acute myeloid leukemia https://ghr.nlm.nih.gov/condition/cytogenetically-normal-acute-myeloid-leukemia Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals html:p autosomal dominant CEBPA https://ghr.nlm.nih.gov/gene/CEBPA acute myelogenous leukemia with normal karyotype db key 2014-01 2017-12-29
each year. Forty to 50 percent of people with acute myeloid leukemia have memo related-gene gene-symbol ghr-page CN-AML GTR C0023467
CN-AML. not inherited DNMT3A https://ghr.nlm.nih.gov/gene/DNMT3A NK-AML db key
related-gene gene-symbol ghr-page normal karyotype acute myeloid leukemia MeSH D015470
FLT3 https://ghr.nlm.nih.gov/gene/FLT3 db key
related-gene gene-symbol ghr-page Orphanet 519
IDH1 https://ghr.nlm.nih.gov/gene/IDH1 db key
related-gene gene-symbol ghr-page SNOMED CT 703387000
IDH2 https://ghr.nlm.nih.gov/gene/IDH2
related-gene gene-symbol ghr-page
KMT2A https://ghr.nlm.nih.gov/gene/KMT2A
related-gene gene-symbol ghr-page
html:p NPM1 https://ghr.nlm.nih.gov/gene/NPM1
related-gene gene-symbol ghr-page
NRAS https://ghr.nlm.nih.gov/gene/NRAS
related-gene gene-symbol ghr-page
RUNX1 https://ghr.nlm.nih.gov/gene/RUNX1
related-gene gene-symbol ghr-page
html:p WT1 https://ghr.nlm.nih.gov/gene/WT1
related-gene-list
Czech dysplasia https://ghr.nlm.nih.gov/condition/czech-dysplasia The prevalence of Czech dysplasia is unknown; at least 11 families have html:p autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 Czech dysplasia, metatarsal type db key 2008-07 2017-12-29
been affected. Most of these families reside in the Czech Republic. progressive pseudorheumatoid dysplasia with hypoplastic toes GTR C1836683
spondyloarthropathy with short third and fourth toes db key
MeSH D010009
db key
OMIM 609162
db key
Orphanet 137678
db key
related-gene-list SNOMED CT 389159004
D-bifunctional protein deficiency https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency D-bifunctional protein deficiency is estimated to affect 1 in 100,000 html:p autosomal recessive HSD17B4 https://ghr.nlm.nih.gov/gene/HSD17B4 17-beta-hydroxysteroid dehydrogenase IV deficiency db key 2014-04 2017-12-29
newborns. bifunctional peroxisomal enzyme deficiency GTR C0342870
DBP deficiency db key
PBFE deficiency GeneReviews leukodys-ov
peroxisomal bifunctional enzyme deficiency db key
pseudo-Zellweger syndrome ICD-10-CM E71.541
Zellweger-like syndrome db key
MeSH D018901
db key
OMIM 261515
db key
SNOMED CT 238068007
html:p
related-gene-list
Dandy-Walker malformation https://ghr.nlm.nih.gov/condition/dandy-walker-malformation Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 html:p pattern unknown FOXC1 https://ghr.nlm.nih.gov/gene/FOXC1 Dandy-Walker complex db key 2015-10 2017-12-29
newborns. related-gene gene-symbol ghr-page Dandy-Walker cyst GTR C0010964
ZIC1 https://ghr.nlm.nih.gov/gene/ZIC1 Dandy-Walker deformity db key
related-gene gene-symbol ghr-page Dandy-Walker syndrome ICD-10-CM Q03.1
ZIC4 https://ghr.nlm.nih.gov/gene/ZIC4 DWM db key
DWS MeSH D003616
hydrocephalus, internal, Dandy-Walker type db key
hydrocephalus, noncommunicating, Dandy-Walker type OMIM 220200
Luschka-Magendie foramina atresia db key
Orphanet 217
db key
html:p SNOMED CT 14447001
html:p
html:p
html:p
html:p
related-gene-list
Danon disease https://ghr.nlm.nih.gov/condition/danon-disease Danon disease is a rare condition, but the exact prevalence is unknown. html:p X-linked dominant LAMP2 https://ghr.nlm.nih.gov/gene/LAMP2 glycogen storage disease type 2B db key 2015-03 2017-12-29
glycogen storage disease type IIb GTR C0878677
lysosomal glycogen storage disease with normal acid maltase db key
MeSH D052120
db key
OMIM 300257
db key
html:p Orphanet 34587
db key
SNOMED CT 419097006
html:p
html:p
html:p
html:p
related-gene-list
Darier disease https://ghr.nlm.nih.gov/condition/darier-disease The worldwide prevalence of Darier disease is unknown. The prevalence of html:p autosomal dominant ATP2A2 https://ghr.nlm.nih.gov/gene/ATP2A2 Darier-White disease db key 2008-03 2017-12-29
Darier disease is estimated to be 1 in 30,000 people in Scotland, 1 in 36,000 Darier's Disease GTR C0022595
people in northern England, and 1 in 100,000 people in Denmark. Keratosis Follicularis db key
MeSH D007644
db key
OMIM 124200
db key
Orphanet 218
db key
html:p SNOMED CT 239110000
db key
SNOMED CT 400018004
db key
SNOMED CT 403783009
db key
SNOMED CT 403784003
db key
html:p SNOMED CT 403785002
db key
SNOMED CT 403786001
db key
SNOMED CT 403787005
db key
SNOMED CT 48611009
html:p
related-gene-list
Deafness and myopia syndrome https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome The prevalence of deafness and myopia syndrome is unknown. Only a few html:p autosomal recessive SLITRK6 https://ghr.nlm.nih.gov/gene/SLITRK6 deafness and myopia db key 2015-11 2017-12-29
affected families have been described in the medical literature. deafness, cochlear, plus GTR C1857342
DFNMYP db key
high myopia and sensorineural deafness GeneReviews dfn-myop
high myopia-sensorineural deafness syndrome db key
myopia and deafness MeSH D006319
db key
MeSH D009216
html:p db key
OMIM 221200
db key
Orphanet 363396
db key
related-gene-list SNOMED CT 720506002
Deafness-dystonia-optic neuronopathy syndrome https://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome DDON syndrome is a rare disorder; it has been reported in fewer than 70 html:p X-linked recessive TIMM8A https://ghr.nlm.nih.gov/gene/TIMM8A Deafness-dystonia syndrome db key 2008-09 2017-12-29
people worldwide. Mohr-Tranebjærg syndrome GTR C0796074
db key
GeneReviews ddon
html:p db key
MeSH D040181
db key
OMIM 304700
html:p db key
Orphanet 52368
db key
SNOMED CT 702423009
html:p
html:p
related-gene-list
Dementia with Lewy bodies https://ghr.nlm.nih.gov/condition/dementia-with-lewy-bodies Dementia with Lewy bodies is estimated to affect 1.4 million people in the html:p autosomal dominant GBA https://ghr.nlm.nih.gov/gene/GBA dementia of the Lewy body type db key 2017-10 2017-12-29
United States. It accounts for about 5 percent of all dementia cases in older related-gene gene-symbol ghr-page dementia, Lewy body GTR C0752347
individuals and is the second most common dementia after Alzheimer disease. SNCA https://ghr.nlm.nih.gov/gene/SNCA diffuse Lewy body disease db key
related-gene gene-symbol ghr-page DLB ICD-10-CM G31.83
SNCB https://ghr.nlm.nih.gov/gene/SNCB LBD db key
Lewy body dementia MeSH D020961
Lewy body disease db key
OMIM 127750
html:p db key
SNOMED CT 80098002
html:p
html:p
html:p
html:p
related-gene-list
Dent disease https://ghr.nlm.nih.gov/condition/dent-disease Dent disease is a rare condition, with about 250 affected families html:p X-linked recessive CLCN5 https://ghr.nlm.nih.gov/gene/CLCN5 Dent's disease db key 2012-09 2017-12-29
reported. Dent disease 1 is more common than Dent disease 2.Dent disease is related-gene gene-symbol ghr-page Dents disease GTR C1845167
likely underdiagnosed because it may not be identified in people with mild signs OCRL https://ghr.nlm.nih.gov/gene/OCRL db key
and symptoms, and because its features overlap with those of other kidney GTR C1848336
disorders. html:p db key
GeneReviews dent
db key
MeSH D057973
db key
OMIM 300009
db key
OMIM 300555
db key
html:p Orphanet 1652
db key
SNOMED CT 444645005
html:p
related-gene-list
Dentatorubral-pallidoluysian atrophy https://ghr.nlm.nih.gov/condition/dentatorubral-pallidoluysian-atrophy DRPLA is most common in the Japanese population, where it has an estimated html:p autosomal dominant ATN1 https://ghr.nlm.nih.gov/gene/ATN1 DRPLA db key 2008-11 2017-12-29
incidence of 2 to 7 per million people. This condition has also been seen in Haw River syndrome GTR C0751781
families from North America and Europe.Although DRPLA is rare in the United Myoclonic with choreoathetosis db key
States, it has been studied in a large African American family from the Haw Naito-Oyanagi disease GeneReviews drpla
River area of North Carolina. When the family was first identified, researchers html:p NOD db key
named the disorder Haw River syndrome. Later, researchers determined that Haw MeSH D020191
River syndrome and DRPLA are the same condition. db key
OMIM 125370
db key
Orphanet 101
db key
SNOMED CT 68116008
related-gene-list
Dentinogenesis imperfecta https://ghr.nlm.nih.gov/condition/dentinogenesis-imperfecta Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people. html:p autosomal dominant DSPP https://ghr.nlm.nih.gov/gene/DSPP DGI db key 2017-06 2017-12-29
hereditary opalescent dentin GTR C0205730
db key
GTR C0399378
db key
html:p ICD-10-CM Q78.0
db key
MeSH D003811
db key
OMIM 125420
db key
OMIM 125490
db key
html:p OMIM 125500
db key
Orphanet 1653
db key
Orphanet 166260
db key
Orphanet 166265
db key
Orphanet 49042
db key
SNOMED CT 196286005
db key
SNOMED CT 234969005
db key
related-gene-list SNOMED CT 234970006
Denys-Drash syndrome https://ghr.nlm.nih.gov/condition/denys-drash-syndrome The prevalence of Denys-Drash syndrome is unknown; at least 150 affected html:p autosomal dominant WT1 https://ghr.nlm.nih.gov/gene/WT1 DDS db key 2013-03 2017-12-29
individuals have been reported in the scientific literature. html:p Drash syndrome GTR C0950121
nephropathy, Wilms tumor, and genital anomalies db key
Wilms tumor and pseudohermaphroditism GeneReviews wilms-ov
db key
MeSH D030321
db key
OMIM 194080
db key
html:p Orphanet 220
db key
SNOMED CT 236385009
html:p
related-gene-list
Deoxyguanosine kinase deficiency https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency The prevalence of deoxyguanosine kinase deficiency is unknown. html:p autosomal recessive DGUOK https://ghr.nlm.nih.gov/gene/DGUOK DGUOK-related mitochondrial DNA depletion syndrome db key 2009-12 2017-12-29
Approximately 100 affected individuals have been identified. hepatocerebral mitochondrial DNA depletion syndrome GTR C3151513
mitochondrial DNA depletion syndrome, hepatocerebral form db key
GeneReviews dguok-mtddepl
db key
html:p MeSH D028361
db key
OMIM 251880
db key
Orphanet 35698
db key
SNOMED CT 237995002
html:p
related-gene-list
Dermatofibrosarcoma protuberans https://ghr.nlm.nih.gov/condition/dermatofibrosarcoma-protuberans Dermatofibrosarcoma protuberans is estimated to occur in 1 in 100,000 to 1 html:p not inherited COL1A1 https://ghr.nlm.nih.gov/gene/COL1A1 Darier-Ferrand tumor db key 2011-09 2017-12-29
in 1 million people per year. related-gene gene-symbol ghr-page Darier-Hoffmann tumor GTR C0392784
PDGFB https://ghr.nlm.nih.gov/gene/PDGFB dermatofibrosarcoma db key
html:p related-chromosome name ghr-page DFSP MeSH D018223
17 https://ghr.nlm.nih.gov/chromosome/17 db key
related-chromosome name ghr-page OMIM 607907
22 https://ghr.nlm.nih.gov/chromosome/22 db key
Orphanet 31112
db key
SNOMED CT 276799004
html:p
html:p
html:p
related-gene-list
Desmoid tumor https://ghr.nlm.nih.gov/condition/desmoid-tumor Desmoid tumors are rare, affecting an estimated 1 to 2 per 500,000 people html:p autosomal dominant APC https://ghr.nlm.nih.gov/gene/APC fibromatosis db key 2013-03 2017-12-29
worldwide. In the United States, 900 to 1,500 new cases are diagnosed per year. memo related-gene gene-symbol ghr-page deep fibromatosis GTR C1851124
Sporadic desmoid tumors are more common than those associated with familial autosomal recessive CTNNB1 https://ghr.nlm.nih.gov/gene/CTNNB1 desmoid fibromatosis db key
adenomatous polyposis. familial infiltrative fibromatosis MeSH D018222
hereditary desmoid disease db key
musculoaponeurotic fibromatosis OMIM 135290
db key
SNOMED CT 47284001
html:p
html:p
html:p
related-gene-list
Desmosterolosis https://ghr.nlm.nih.gov/condition/desmosterolosis The prevalence of desmosterolosis is unknown; at least 10 affected html:p autosomal recessive DHCR24 https://ghr.nlm.nih.gov/gene/DHCR24 deficiency of 3beta-hydroxysterol delta24-reductase db key 2014-08 2017-12-29
individuals have been described in the scientific literature. GTR C1865596
db key
html:p MeSH D008052
db key
OMIM 602398
db key
Orphanet 35107
db key
SNOMED CT 709490002
html:p
related-gene-list
Diamond-Blackfan anemia https://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia Diamond-Blackfan anemia affects approximately 5 to 7 per million liveborn html:p autosomal dominant RPL5 https://ghr.nlm.nih.gov/gene/RPL5 Aase-Smith syndrome II db key 2012-02 2017-12-29
infants worldwide. related-gene gene-symbol ghr-page Aase syndrome GTR C0265265
RPL11 https://ghr.nlm.nih.gov/gene/RPL11 BDA db key
related-gene gene-symbol ghr-page BDS GTR C1260899
RPL35A https://ghr.nlm.nih.gov/gene/RPL35A Blackfan Diamond anemia db key
related-gene gene-symbol ghr-page Blackfan-Diamond disease GTR C1853666
html:p RPS7 https://ghr.nlm.nih.gov/gene/RPS7 Blackfan-Diamond syndrome db key
related-gene gene-symbol ghr-page chronic congenital agenerative anemia GTR C1857719
RPS10 https://ghr.nlm.nih.gov/gene/RPS10 congenital erythroid hypoplastic anemia db key
related-gene gene-symbol ghr-page congenital hypoplastic anemia of Blackfan and Diamond GTR C2675511
RPS17 https://ghr.nlm.nih.gov/gene/RPS17 congenital pure red cell anemia db key
related-gene gene-symbol ghr-page congenital pure red cell aplasia GTR C2675512
RPS19 https://ghr.nlm.nih.gov/gene/RPS19 DBA db key
html:p related-gene gene-symbol ghr-page erythrogenesis imperfecta GTR C2675859
RPS24 https://ghr.nlm.nih.gov/gene/RPS24 hypoplastic congenital anemia db key
related-gene gene-symbol ghr-page inherited erythroblastopenia GTR C2675860
RPS26 https://ghr.nlm.nih.gov/gene/RPS26 pure hereditary red cell aplasia db key
GTR C2750080
db key
GTR C2750081
db key
GeneReviews diamond-b
db key
html:p ICD-10-CM D61.01
db key
MeSH D029503
db key
OMIM 105650
db key
html:p OMIM 606129
db key
OMIM 610629
db key
OMIM 612527
db key
OMIM 612528
db key
OMIM 612561
db key
OMIM 612562
db key
OMIM 612563
db key
OMIM 613308
db key
OMIM 613309
db key
Orphanet 124
db key
SNOMED CT 191240007
db key
SNOMED CT 71988008
db key
related-gene-list SNOMED CT 88854002
Diastrophic dysplasia https://ghr.nlm.nih.gov/condition/diastrophic-dysplasia Although the exact prevalence of diastrophic dysplasia is unknown, html:p autosomal recessive SLC26A2 https://ghr.nlm.nih.gov/gene/SLC26A2 Diastrophic dwarfism db key 2008-02 2017-12-29
researchers estimate that it affects about 1 in 500,000 newborns in the United DTD GTR C0220726
States. This condition is more common in Finland, where it affects about 1 in db key
33,000 newborns. GeneReviews diastrophic-d
db key
ICD-10-CM Q77.5
db key
MeSH D010009
db key
OMIM 222600
db key
html:p Orphanet 628
db key
SNOMED CT 58561002
inheritance-pattern-list related-gene-list
DICER1 syndrome https://ghr.nlm.nih.gov/condition/dicer1-syndrome DICER1 syndrome is a rare condition; its prevalence is unknown. html:p ad autosomal dominant ghr-page DICER1-related pleuropulmonary blastoma cancer predisposition syndrome db-key db key 2016-05 2017-12-29
https://ghr.nlm.nih.gov/gene/DICER1 pleuropulmonary blastoma familial tumor and dysplasia syndrome GTR C1266144
pleuropulmonary blastoma family tumor susceptibility syndrome db-key db key
GeneReviews pp-blastoma
db-key db key
MeSH D009386
db-key db key
OMIM 138800
html:p db-key db key
OMIM 601200
db-key db key
Orphanet 284343
db-key db key
SNOMED CT 702411003
html:p
html:p
html:p
related-gene-list
Dihydrolipoamide dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/dihydrolipoamide-dehydrogenase-deficiency Dihydrolipoamide dehydrogenase deficiency occurs in an estimated 1 in html:p autosomal recessive DLD https://ghr.nlm.nih.gov/gene/DLD dihydrolipoyl dehydrogenase deficiency db key 2014-09 2017-12-29
35,000 to 48,000 individuals of Ashkenazi Jewish descent. This population DLD deficiency GTR CN043137
typically has liver disease as the primary symptom. In other populations, the E3 deficiency db key
prevalence of dihydrolipoamide dehydrogenase deficiency is unknown, but the html:p lactic acidosis due to LAD deficiency GeneReviews dld-def
condition is likely rare. lactic acidosis due to lipoamide dehydrogenase deficiency db key
lipoamide dehydrogenase deficiency MeSH D028361
maple syrup urine disease, type III db key
OMIM 246900
db key
Orphanet 2394
db key
SNOMED CT 29914000
html:p
related-gene-list
Dihydropyrimidinase deficiency https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency Dihydropyrimidinase deficiency is thought to be a rare disorder. Only a few html:p autosomal recessive DPYS https://ghr.nlm.nih.gov/gene/DPYS dihydropyrimidinuria db key 2014-09 2017-12-29
dozen affected individuals have been described in the medical literature. dihydrouracil amidohydrolase deficiency GTR C0342803
DPH deficiency db key
DPYS deficiency MeSH D011686
db key
html:p OMIM 222748
db key
Orphanet 38874
db key
SNOMED CT 238014002
html:p
html:p
related-gene-list
Dihydropyrimidine dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/dihydropyrimidine-dehydrogenase-deficiency Severe dihydropyrimidine dehydrogenase deficiency, with its early-onset html:p autosomal dominant DPYD https://ghr.nlm.nih.gov/gene/DPYD dihydropyrimidinuria db key 2015-09 2017-12-29
neurological symptoms, is a rare disorder. Its prevalence is unknown. However, memo DPD deficiency GTR C2720286
between 2 and 8 percent of the general population may be vulnerable to toxic autosomal recessive familial pyrimidemia db key
reactions to fluoropyrimidine drugs caused by otherwise asymptomatic html:p hereditary thymine-uraciluria MeSH D054067
dihydropyrimidine dehydrogenase deficiency. db key
OMIM 274270
db key
Orphanet 1675
db key
SNOMED CT 77365006
html:p
related-gene-list
Dilated cardiomyopathy with ataxia syndrome https://ghr.nlm.nih.gov/condition/dilated-cardiomyopathy-with-ataxia-syndrome DCMA syndrome is a very rare disorder. Approximately 30 cases have been html:p autosomal recessive DNAJC19 https://ghr.nlm.nih.gov/gene/DNAJC19 3-methylglutaconic aciduria type V db key 2014-07 2017-12-29
identified in the Dariusleut Hutterite population of the Great Plains region of DCMA GTR C1857776
Canada. Only a few affected individuals have been identified outside this DCMA syndrome db key
population. html:p DNAJC19 defect ICD-10-CM E71.111
MGA type V db key
MGA5 MeSH D008661
MGCA5 db key
OMIM 610198
db key
Orphanet 66634
db key
SNOMED CT 711412004
html:p
html:p
html:p
related-gene-list
Distal 18q deletion syndrome https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome Deletions from the q arm of chromosome 18 occur in an estimated 1 in 40,000 html:p autosomal dominant TCF4 https://ghr.nlm.nih.gov/gene/TCF4 18q deletion syndrome db key 2017-02 2017-12-29
newborns worldwide. Most of these deletions occur in the distal region of the q memo related-gene gene-symbol ghr-page 18q- syndrome GTR C0432443
arm, leading to distal 18q deletion syndrome. not inherited TSHZ1 https://ghr.nlm.nih.gov/gene/TSHZ1 chromosome 18 long arm deletion syndrome db key
related-chromosome name ghr-page chromosome 18q deletion syndrome MeSH D025063
18 https://ghr.nlm.nih.gov/chromosome/18 chromosome 18q monosomy db key
html:p chromosome 18q- syndrome OMIM 601808
De Grouchy syndrome
del(18q) syndrome
monosomy 18q
html:p
related-gene-list
Distal arthrogryposis type 1 https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1 Distal arthrogryposis type 1 affects an estimated 1 in 10,000 people html:p autosomal dominant MYBPC1 https://ghr.nlm.nih.gov/gene/MYBPC1 AMCD1 db key 2017-10 2017-12-29
worldwide. related-gene gene-symbol ghr-page arthrogryposis, distal, type 1 GTR C0220662
TPM2 https://ghr.nlm.nih.gov/gene/TPM2 DA1 db key
MeSH D001176
db key
OMIM 108120
db key
Orphanet 1146
db key
SNOMED CT 715314008
related-gene-list
Distal hereditary motor neuropathy, type II https://ghr.nlm.nih.gov/condition/distal-hereditary-motor-neuropathy-type-ii The prevalence of distal hereditary motor neuropathy, type II is unknown. html:p autosomal dominant HSPB1 https://ghr.nlm.nih.gov/gene/HSPB1 distal hereditary motor neuronopathy, type II db key 2009-08 2017-12-29
At least 25 affected families have been identified worldwide. related-gene gene-symbol ghr-page GTR C1834692
HSPB8 https://ghr.nlm.nih.gov/gene/HSPB8 db key
html:p GTR C2608087
db key
MeSH D009134
db key
OMIM 158590
db key
OMIM 608634
db key
html:p Orphanet 139525
db key
SNOMED CT 230247001
related-gene-list
Distal hereditary motor neuropathy, type V https://ghr.nlm.nih.gov/condition/distal-hereditary-motor-neuropathy-type-v The incidence of distal hereditary motor neuropathy, type V is unknown. html:p autosomal dominant BSCL2 https://ghr.nlm.nih.gov/gene/BSCL2 DHMN-V db key 2009-08 2017-12-29
Only a small number of cases have been reported. related-gene gene-symbol ghr-page distal hereditary motor neuronopathy type 5 GTR C1833308
GARS https://ghr.nlm.nih.gov/gene/GARS distal hereditary motor neuronopathy, type V db key
html:p related-gene gene-symbol ghr-page distal spinal muscular atrophy, type V GTR C3553656
REEP1 https://ghr.nlm.nih.gov/gene/REEP1 DSMAV db key
HMN V GeneReviews cmt2d
html:p spinal muscular atrophy, distal type V db key
spinal muscular atrophy, distal, with upper limb predominance GeneReviews spg17
db key
MeSH D009134
db key
OMIM 600794
db key
OMIM 614751
db key
Orphanet 139536
db key
related-gene-list SNOMED CT 230247001
Distal myopathy 2 https://ghr.nlm.nih.gov/condition/distal-myopathy-2 The prevalence of distal myopathy 2 is unknown. At least two families with html:p autosomal dominant MATR3 https://ghr.nlm.nih.gov/gene/MATR3 distal myopathy with vocal cord and pharyngeal signs db key 2011-11 2017-12-29
the condition have been described in the scientific literature. distal myopathy with vocal cord weakness GTR C3807521
matrin 3 distal myopathy db key
MPD2 MeSH D049310
myopathia distalis type 2 db key
html:p VCPDM OMIM 606070
vocal cord and pharyngeal weakness with distal myopathy db key
Orphanet 600
db key
SNOMED CT 702383005
html:p
related-gene-list
DNMT3A overgrowth syndrome https://ghr.nlm.nih.gov/condition/dnmt3a-overgrowth-syndrome The prevalence of DNMT3A overgrowth syndrome is unknown. More than 20 html:p ad autosomal dominant DNMT3A synonym db-key db key 2017-09 2017-12-29
affected individuals have been described in the medical literature. synonym GTR C4014545
db-key db key
html:p MeSH D005877
db-key db key
OMIM 615879
db-key db key
html:p SNOMED CT 48637007
html:p
html:p
inheritance-pattern-list related-gene-list
DOLK-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation DOLK-CDG is likely a rare condition; at least 18 cases have been reported html:p ar autosomal recessive ghr-page CDG1M db-key db key 2016-03 2017-12-29
in the scientific literature. https://ghr.nlm.nih.gov/gene/DOLK congenital disorder of glycosylation, type Im GTR C1835849
DK1 deficiency db-key db key
dolichol kinase deficiency GeneReviews cdg
html:p DOLK-CDG db-key db key
MeSH D018981
db-key db key
OMIM 610768
db-key db key
Orphanet 137
html:p db-key db key
SNOMED CT 718712005
related-gene-list
Donnai-Barrow syndrome https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome Although its prevalence is unknown, Donnai-Barrow syndrome appears to be a html:p autosomal recessive LRP2 https://ghr.nlm.nih.gov/gene/LRP2 DBS db key 2013-04 2017-12-29
rare disorder. A few dozen affected individuals have been reported in many DBS/FOAR syndrome GTR C1857277
regions of the world. diaphragmatic hernia-exomphalos-corpus callosum agenesis db key
Diaphragmatic hernia-exomphalos-hypertelorism syndrome GeneReviews donnai
faciooculoacousticorenal syndrome db key
html:p FOAR syndrome MeSH D015499
db key
OMIM 222448
db key
Orphanet 2143
db key
html:p SNOMED CT 702418009
html:p
related-gene-list
Donohue syndrome https://ghr.nlm.nih.gov/condition/donohue-syndrome Donohue syndrome is estimated to affect less than 1 per million people html:p autosomal recessive INSR https://ghr.nlm.nih.gov/gene/INSR Donohue's syndrome db key 2014-12 2017-12-29
worldwide. Several dozen cases have been reported in the medical literature. leprechaunism GTR C0265344
leprechaunism syndrome db key
MeSH D056731
db key
OMIM 246200
db key
html:p Orphanet 508
db key
SNOMED CT 111307005
html:p
related-gene-list
DOORS syndrome https://ghr.nlm.nih.gov/condition/doors-syndrome DOORS syndrome is a rare disorder; its prevalence is unknown. Approximately html:p autosomal recessive TBC1D24 https://ghr.nlm.nih.gov/gene/TBC1D24 autosomal recessive deafness-onychodystrophy syndrome db key 2015-12 2017-12-29
50 affected individuals have been described in the medical literature. deafness-oncychodystrophy-osteodystrophy- disability syndrome GTR C1857345
deafness-onychoosteodystrophy- disability syndrome db key
deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome GeneReviews tbc1d24-dis
digitorenocerebral syndrome db key
DOOR syndrome MeSH D000015
html:p DRC syndrome db key
Eronen syndrome OMIM 220500
db key
html:p Orphanet 79500
db key
SNOMED CT 719800009
html:p
html:p
related-gene-list
Dopa-responsive dystonia https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia Dopa-responsive dystonia is estimated to affect 1 per million people html:p autosomal dominant GCH1 https://ghr.nlm.nih.gov/gene/GCH1 DRD db key 2012-05 2017-12-29
worldwide. However, the disorder is likely underdiagnosed because the condition memo related-gene gene-symbol ghr-page dystonia 5, dopa-responsive type GTR C0268468
may not be identified in people with mild symptoms, or it may be misdiagnosed in autosomal recessive SPR https://ghr.nlm.nih.gov/gene/SPR hereditary progressive dystonia with marked diurnal fluctuation db key
people who have symptoms similar to other movement disorders. related-gene gene-symbol ghr-page GTR C1851920
TH https://ghr.nlm.nih.gov/gene/TH db key
html:p GTR C1854299
db key
GeneReviews drd
db key
GeneReviews dystonia-ov
db key
MeSH D004421
db key
html:p OMIM 128230
db key
OMIM 605407
db key
html:p OMIM 612716
db key
Orphanet 255
db key
html:p SNOMED CT 230332007
db key
SNOMED CT 45116002
db key
SNOMED CT 715768000
db key
related-gene-list SNOMED CT 715827001
Dopamine beta-hydroxylase deficiency https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency Dopamine β-hydroxylase deficiency is a very rare disorder. Fewer than 20 html:p autosomal recessive DBH https://ghr.nlm.nih.gov/gene/DBH dopamine β-hydroxylase db key 2008-09 2017-12-29
affected individuals, all of Western European descent, have been described in noradrenaline deficiency GTR C0342687
the scientific literature. norepinephrine deficiency db key
GeneReviews dbh
db key
MeSH D001342
html:p db key
OMIM 223360
db key
Orphanet 230
db key
SNOMED CT 237923004
html:p
related-gene-list
Dopamine transporter deficiency syndrome https://ghr.nlm.nih.gov/condition/dopamine-transporter-deficiency-syndrome Dopamine transporter deficiency syndrome appears to be a rare disease; only html:p autosomal recessive SLC6A3 https://ghr.nlm.nih.gov/gene/SLC6A3 DTDS db key 2015-10 2017-12-29
about 20 affected individuals have been described in the medical literature. infantile parkinsonism-dystonia GTR C2751067
Researchers believe that the condition is probably underdiagnosed because its parkinsonism-dystonia, infantile db key
signs and symptoms overlap with cerebral palsy and other movement disorders. PKDYS GeneReviews parkinson-overview
db key
html:p GeneReviews slc6a3-dtds
db key
MeSH D010300
db key
MeSH D020821
html:p db key
OMIM 613135
db key
SNOMED CT 722763000
html:p
related-gene-list
Dowling-Degos disease https://ghr.nlm.nih.gov/condition/dowling-degos-disease Dowling-Degos disease appears to be a rare condition, although its html:p autosomal dominant KRT5 https://ghr.nlm.nih.gov/gene/KRT5 dark dot disease db key 2017-08 2017-12-29
prevalence is unknown. related-gene gene-symbol ghr-page DDD GTR C3714534
POFUT1 https://ghr.nlm.nih.gov/gene/POFUT1 Dowling-Degos-Kitamura disease db key
related-gene gene-symbol ghr-page reticular pigment anomaly of flexures GTR C3809147
POGLUT1 https://ghr.nlm.nih.gov/gene/POGLUT1 reticular pigmented anomaly of flexures db key
related-gene gene-symbol ghr-page GTR C3810313
PSENEN https://ghr.nlm.nih.gov/gene/PSENEN db key
MeSH D012873
html:p db key
OMIM 179850
db key
OMIM 615327
db key
OMIM 615674
html:p db key
OMIM 615696
db key
html:p Orphanet 79145
db key
SNOMED CT 239054009
html:p
related-gene-list
Down syndrome https://ghr.nlm.nih.gov/condition/down-syndrome Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with html:p not inherited 21 https://ghr.nlm.nih.gov/chromosome/21 47,XX,+21 db key 2012-06 2017-12-29
Down syndrome are born in the United States each year, and approximately 200,000 47,XY,+21 GTR C0013080
people in this country have the condition. Although women of any age can have a Down's syndrome db key
child with Down syndrome, the chance of having a child with this condition trisomy 21 ICD-10-CM Q90
increases as a woman gets older. html:p trisomy G db key
ICD-10-CM Q90.0
db key
html:p ICD-10-CM Q90.1
db key
ICD-10-CM Q90.2
db key
ICD-10-CM Q90.9
db key
MeSH D004314
db key
OMIM 190685
html:p db key
Orphanet 870
db key
SNOMED CT 205615000
db key
SNOMED CT 205616004
db key
SNOMED CT 254264002
html:p db key
SNOMED CT 371045000
db key
SNOMED CT 41040004
related-gene-list
Duane-radial ray syndrome https://ghr.nlm.nih.gov/condition/duane-radial-ray-syndrome Duane-radial ray syndrome is a rare condition whose prevalence is unknown. html:p autosomal dominant SALL4 https://ghr.nlm.nih.gov/gene/SALL4 DRRS db key 2009-12 2017-12-29
Only a few affected families have been reported worldwide. Okihiro syndrome GTR C1623209
db key
GeneReviews drrs
db key
ICD-10-CM H50.81
db key
ICD-10-CM H50.811
html:p db key
ICD-10-CM H50.812
db key
MeSH D004370
html:p db key
OMIM 607323
db key
Orphanet 233
db key
html:p SNOMED CT 699867001
related-gene-list
Dubin-Johnson syndrome https://ghr.nlm.nih.gov/condition/dubin-johnson-syndrome Although Dubin-Johnson syndrome occurs in people of all ethnic backgrounds, html:p autosomal recessive ABCC2 https://ghr.nlm.nih.gov/gene/ABCC2 DJS db key 2009-03 2017-12-29
it is more common among Iranian and Moroccan Jews living in Israel. Studies hyperbilirubinemia II GTR C0022350
suggest that this disorder affects 1 in 1,300 Iranian Jews in Israel. Jaundice, Chronic Idiopathic db key
Additionally, several people in the Japanese population have been diagnosed with ICD-10-CM E80.6
Dubin-Johnson syndrome. This condition appears to be less common in other db key
countries. MeSH D007566
db key
OMIM 237500
db key
Orphanet 234
db key
related-gene-list SNOMED CT 44553005
Duchenne and Becker muscular dystrophy https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to html:p X-linked recessive DMD https://ghr.nlm.nih.gov/gene/DMD DBMD db key 2016-11 2017-12-29
5,000 newborn males worldwide. Between 400 and 600 boys in the United States are Duchenne/Becker muscular dystrophy GTR C0013264
born with these conditions each year. muscular dystrophy, Duchenne and Becker types db key
muscular dystrophy, pseudohypertrophic GTR C0917713
db key
html:p GeneReviews dbmd
db key
GeneReviews dcm-ov
db key
MeSH D020388
db key
OMIM 300376
db key
OMIM 310200
html:p db key
Orphanet 262
db key
SNOMED CT 387732009
db key
SNOMED CT 76670001
html:p
related-gene-list
Dupuytren contracture https://ghr.nlm.nih.gov/condition/dupuytren-contracture Dupuytren contracture occurs in about 5 percent of people in the United html:p autosomal dominant C8orf34 https://ghr.nlm.nih.gov/gene/C8orf34 contraction of palmar fascia db key 2016-09 2017-12-29
States. It is common in northern Europeans; 30 percent of Norwegian men over age memo related-gene gene-symbol ghr-page Dupuytren's contracture GTR C0013312
60 develop the disorder. Studies suggest that a genetic predisposition to mitochondrial EPDR1 https://ghr.nlm.nih.gov/gene/EPDR1 Dupuytren's disease db key
develop this disorder may have been spread through northern Europe and Britain memo related-gene gene-symbol ghr-page familial palmar fibromatosis ICD-10-CM M72.0
by the Vikings. Dupuytren contracture is less common in non-European not inherited RSPO2 https://ghr.nlm.nih.gov/gene/RSPO2 palmar fascial fibromatosis db key
populations. related-gene gene-symbol ghr-page palmar fibromas MeSH D004387
SFRP4 https://ghr.nlm.nih.gov/gene/SFRP4 db key
related-gene gene-symbol ghr-page OMIM 126900
html:p SULF1 https://ghr.nlm.nih.gov/gene/SULF1 db key
related-gene gene-symbol ghr-page Orphanet 79142
WNT2 https://ghr.nlm.nih.gov/gene/WNT2 db key
html:p related-gene gene-symbol ghr-page SNOMED CT 274142002
WNT4 https://ghr.nlm.nih.gov/gene/WNT4
related-gene gene-symbol ghr-page
WNT7B https://ghr.nlm.nih.gov/gene/WNT7B
html:p
html:p
html:p
related-gene-list
Dyserythropoietic anemia and thrombocytopenia https://ghr.nlm.nih.gov/condition/dyserythropoietic-anemia-and-thrombocytopenia Dyserythropoietic anemia and thrombocytopenia is a rare condition; its html:p X-linked recessive GATA1 https://ghr.nlm.nih.gov/gene/GATA1 dyserythropoietic anemia with thrombocytopenia db key 2014-10 2017-12-29
prevalence is unknown. Occasionally, individuals with this disorder are GATA-1-related thrombocytopenia with dyserythropoiesis GTR C1845837
mistakenly diagnosed as having more common blood disorders, making it even more GATA1-related cytopenia db key
difficult to determine how many people have dyserythropoietic anemia and GATA1-related X-linked cytopenia GeneReviews gata1
thrombocytopenia. X-linked macrothrombocytopenia db key
MeSH D013921
db key
OMIM 300367
db key
Orphanet 67044
db key
SNOMED CT 713388002
html:p
html:p
related-gene-list
Dyskeratosis congenita https://ghr.nlm.nih.gov/condition/dyskeratosis-congenita The exact prevalence of dyskeratosis congenita is unknown. It is estimated html:p autosomal dominant CTC1 https://ghr.nlm.nih.gov/gene/CTC1 Zinsser-Cole-Engman syndrome db key 2014-03 2017-12-29
to occur in approximately 1 in 1 million people. memo related-gene gene-symbol ghr-page GTR C0265965
autosomal recessive DKC1 https://ghr.nlm.nih.gov/gene/DKC1 db key
memo related-gene gene-symbol ghr-page GTR C1148551
X-linked recessive NHP2 https://ghr.nlm.nih.gov/gene/NHP2 db key
related-gene gene-symbol ghr-page GTR C1851970
html:p NOP10 https://ghr.nlm.nih.gov/gene/NOP10 db key
related-gene gene-symbol ghr-page GTR C1857144
RTEL1 https://ghr.nlm.nih.gov/gene/RTEL1 db key
related-gene gene-symbol ghr-page GeneReviews dkc
TERC https://ghr.nlm.nih.gov/gene/TERC db key
related-gene gene-symbol ghr-page MeSH D019871
TERT https://ghr.nlm.nih.gov/gene/TERT db key
related-gene gene-symbol ghr-page OMIM 127550
TINF2 https://ghr.nlm.nih.gov/gene/TINF2 db key
related-gene gene-symbol ghr-page OMIM 224230
WRAP53 https://ghr.nlm.nih.gov/gene/WRAP53 db key
OMIM 268130
html:p db key
OMIM 305000
db key
OMIM 613987
db key
OMIM 613988
db key
OMIM 613989
db key
OMIM 613990
db key
html:p OMIM 615190
db key
Orphanet 1775
db key
SNOMED CT 74911008
html:p
related-gene-list
Dystonia 6 https://ghr.nlm.nih.gov/condition/dystonia-6 The prevalence of 6 is unknown. Studies indicate that it likely html:p autosomal dominant THAP1 https://ghr.nlm.nih.gov/gene/THAP1 DYT6 db key 2013-11 2017-12-29
accounts for between 1 and 3 percent of all cases of . For reasons that DYT6 dystonia GTR C1414216
are unclear, the disorder appears to be slightly more prevalent in females than idiopathic torsion dystonia of mixed type db key
in males. primary dystonia, DYT6 type GeneReviews dystonia-ov
THAP1 dystonia db key
html:p torsion dystonia 6 ICD-10-CM G24.1
db key
MeSH D020821
db key
OMIM 602629
db key
Orphanet 98806
db key
related-gene-list SNOMED CT 702448007
Dystrophic epidermolysis bullosa https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa Considered together, the incidence of all types of dystrophic epidermolysis html:p autosomal dominant COL7A1 https://ghr.nlm.nih.gov/gene/COL7A1 Epidermolysis Bullosa Dystrophica db key 2008-01 2017-12-29
bullosa is estimated to be 6.5 per million newborns in the United States. The memo Epidermolysis Bullosa, Dystrophic GTR C0079294
severe autosomal recessive forms of this disorder affect fewer than 1 per autosomal recessive db key
million newborns. GTR C0079474
db key
GTR C0432322
db key
GeneReviews ebd
html:p db key
ICD-10-CM Q81.2
db key
html:p MeSH D016108
db key
OMIM 131750
db key
OMIM 226600
db key
Orphanet 303
db key
SNOMED CT 111389006
db key
SNOMED CT 254185007
db key
SNOMED CT 254186008
db key
html:p SNOMED CT 254188009
db key
SNOMED CT 48528004
db key
SNOMED CT 75875004
html:p
related-gene-list
Early infantile epileptic encephalopathy 1 https://ghr.nlm.nih.gov/condition/early-infantile-epileptic-encephalopathy-1 Infantile spasms are estimated to affect 1 to 1.6 in 100,000 individuals. html:p X-linked recessive ARX https://ghr.nlm.nih.gov/gene/ARX early infantile epileptic encephalopathy-1 db key 2017-11 2017-12-29
This estimate includes EIEE1 as well as infantile spasms that have other causes. EIEE1 GTR C0037769
epileptic encephalopathy, early infantile, 1 db key
infantile epileptic-dyskinetic encephalopathy GTR C3463992
ISSX db key
ISSX1 MeSH D038901
X-linked infantile spasm syndrome db key
X-linked infantile spasm syndrome 1 OMIM 308350
X-linked Ohtahara syndrome db key
X-linked West syndrome Orphanet 3451
html:p db key
SNOMED CT 28055006
html:p
related-gene-list
Early-onset glaucoma https://ghr.nlm.nih.gov/condition/early-onset-glaucoma Primary congenital glaucoma affects approximately 1 in 10,000 people. Its html:p autosomal dominant CYP1B1 https://ghr.nlm.nih.gov/gene/CYP1B1 hereditary glaucoma db key 2009-02 2017-12-29
frequency is higher in the Middle East. Juvenile open-angle glaucoma affects memo related-gene gene-symbol ghr-page GTR C0020302
about 1 in 50,000 people. Primary open-angle glaucoma is much more common after autosomal recessive MYOC https://ghr.nlm.nih.gov/gene/MYOC db key
the age of 40, affecting about 1 percent of the population worldwide. GTR C1842028
db key
GeneReviews glc
html:p db key
ICD-10-CM Q15.0
db key
html:p MeSH D005901
db key
OMIM 137750
db key
html:p OMIM 231300
db key
Orphanet 359
db key
SNOMED CT 415176004
html:p db key
SNOMED CT 71111008
related-gene-list
Early-onset myopathy with fatal cardiomyopathy https://ghr.nlm.nih.gov/condition/early-onset-myopathy-with-fatal-cardiomyopathy EOMFC appears to be a rare disorder, although its prevalence is unknown. It html:p autosomal recessive TTN https://ghr.nlm.nih.gov/gene/TTN EOMFC db key 2016-12 2017-12-29
has been reported in a small number of families of Moroccan and Sudanese Salih CMD GTR C2673677
descent. Salih congenital muscular dystrophy db key
Salih myopathy GeneReviews salih-myo
titinopathy & early-onset myopathy with fatal cardiomyopathy db key
MeSH D009135
db key
OMIM 611705
db key
html:p Orphanet 289377
db key
SNOMED CT 702343002
related-gene-list
Early-onset primary dystonia https://ghr.nlm.nih.gov/condition/early-onset-primary-dystonia Early-onset primary dystonia is among the most common forms of childhood html:p autosomal dominant TOR1A https://ghr.nlm.nih.gov/gene/TOR1A Dystonia musculorum deformans 1 db key 2008-05 2017-12-29
. This disorder occurs most frequently in people of Ashkenazi (central DYT1 GTR C1851945
and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 people in Early-onset generalized torsion dystonia db key
this population. The condition is less common among people with other Oppenheim dystonia GeneReviews dystonia
backgrounds; it is estimated to affect 1 in 10,000 to 30,000 non-Jewish people Oppenheim's dystonia db key
worldwide. Primary torsion dystonia ICD-10-CM G24.1
db key
MeSH D020821
html:p db key
OMIM 128100
db key
Orphanet 256
db key
SNOMED CT 22451001
html:p
related-gene-list
Ehlers-Danlos syndrome https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome The combined prevalence of all types of Ehlers-Danlos syndrome appears to html:p autosomal dominant ADAMTS2 https://ghr.nlm.nih.gov/gene/ADAMTS2 EDS db key 2017-11 2017-12-29
be at least 1 in 5,000 individuals worldwide. The hypermobile and classical memo related-gene gene-symbol ghr-page Ehlers Danlos disease GTR C0013720
forms are most common; the hypermobile type may affect as many as 1 in 5,000 to autosomal recessive B3GALT6 https://ghr.nlm.nih.gov/gene/B3GALT6 db key
20,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 related-gene gene-symbol ghr-page GTR C0220679
people. Other forms of Ehlers-Danlos syndrome are rare, often with only a few html:p B4GALT7 https://ghr.nlm.nih.gov/gene/B4GALT7 db key
cases or affected families described in the medical literature. related-gene gene-symbol ghr-page GTR C0268335
C1R https://ghr.nlm.nih.gov/gene/C1R db key
related-gene gene-symbol ghr-page GTR C0268337
C1S https://ghr.nlm.nih.gov/gene/C1S db key
related-gene gene-symbol ghr-page GTR C0268338
CHST14 https://ghr.nlm.nih.gov/gene/CHST14 db key
related-gene gene-symbol ghr-page GTR C0268341
html:p COL1A1 https://ghr.nlm.nih.gov/gene/COL1A1 db key
related-gene gene-symbol ghr-page GTR C0268342
COL1A2 https://ghr.nlm.nih.gov/gene/COL1A2 db key
related-gene gene-symbol ghr-page GTR C0268345
COL3A1 https://ghr.nlm.nih.gov/gene/COL3A1 db key
related-gene gene-symbol ghr-page GTR C0268347
COL5A1 https://ghr.nlm.nih.gov/gene/COL5A1 db key
html:p related-gene gene-symbol ghr-page GTR C0268349
COL5A2 https://ghr.nlm.nih.gov/gene/COL5A2 db key
related-gene gene-symbol ghr-page GTR C1837462
COL12A1 https://ghr.nlm.nih.gov/gene/COL12A1 db key
related-gene gene-symbol ghr-page GTR C1851801
DSE https://ghr.nlm.nih.gov/gene/DSE db key
related-gene gene-symbol ghr-page GTR C1857034
FKBP14 https://ghr.nlm.nih.gov/gene/FKBP14 db key
html:p related-gene gene-symbol ghr-page GTR C1857038
PLOD1 https://ghr.nlm.nih.gov/gene/PLOD1 db key
related-gene gene-symbol ghr-page GTR C1866294
PRDM5 https://ghr.nlm.nih.gov/gene/PRDM5 db key
related-gene gene-symbol ghr-page GTR C1869122
SLC39A13 https://ghr.nlm.nih.gov/gene/SLC39A13 db key
related-gene gene-symbol ghr-page GTR C2700425
html:p TNXB https://ghr.nlm.nih.gov/gene/TNXB db key
related-gene gene-symbol ghr-page GTR C3281160
ZNF469 https://ghr.nlm.nih.gov/gene/ZNF469 db key
GTR C3809210
db key
GTR C3809845
db key
GTR C4310681
db key
GTR CN071419
db key
GTR CN071423
db key
GTR CN071434
db key
GeneReviews eds
db key
GeneReviews eds3
db key
GeneReviews eds4
db key
GeneReviews eds6
db key
ICD-10-CM Q79.6
db key
MeSH D004535
db key
OMIM 130000
db key
OMIM 130020
db key
OMIM 130050
db key
OMIM 130060
db key
OMIM 130070
db key
OMIM 130080
db key
OMIM 130090
db key
OMIM 225310
db key
OMIM 225320
db key
OMIM 225400
db key
OMIM 225410
db key
OMIM 229200
db key
OMIM 305200
db key
OMIM 601776
db key
OMIM 606408
db key
OMIM 608763
db key
OMIM 614557
db key
OMIM 615349
db key
OMIM 615539
db key
OMIM 617174
db key
Orphanet 98249
db key
SNOMED CT 17025000
db key
SNOMED CT 20766005
db key
SNOMED CT 25606004
db key
SNOMED CT 30652003
db key
SNOMED CT 398114001
db key
SNOMED CT 55711009
db key
related-gene-list SNOMED CT 83470009
Ellis-van Creveld syndrome https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in html:p autosomal recessive EVC https://ghr.nlm.nih.gov/gene/EVC chondroectodermal dysplasia db key 2012-12 2017-12-29
60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence related-gene gene-symbol ghr-page Ellis-van Creveld dysplasia GTR C0013903
because the disorder is very rare in the general population. This condition is EVC2 https://ghr.nlm.nih.gov/gene/EVC2 db key
much more common in the Old Order Amish population of Lancaster County, ICD-10-CM Q77.6
Pennsylvania, and in the indigenous (native) population of Western Australia. db key
MeSH D004613
db key
html:p OMIM 225500
db key
Orphanet 289
db key
SNOMED CT 62501005
related-gene-list
Emanuel syndrome https://ghr.nlm.nih.gov/condition/emanuel-syndrome Emanuel syndrome is a rare disorder; its prevalence is unknown. More than html:p autosomal dominant 11 https://ghr.nlm.nih.gov/chromosome/11 Der(22) syndrome due to 3:1 meiotic disjunction events db key 2017-01 2017-12-29
100 individuals with this condition have been reported. related-chromosome name ghr-page supernumerary der(22) syndrome GTR C1836929
22 https://ghr.nlm.nih.gov/chromosome/22 supernumerary der(22)t(11;22) syndrome db key
supernumerary derivative 22 chromosome syndrome GeneReviews emanuel
db key
html:p MeSH D025063
db key
OMIM 609029
db key
Orphanet 96170
db key
SNOMED CT 702417004
related-gene-list
Emery-Dreifuss muscular dystrophy https://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy The overall prevalence of Emery-Dreifuss muscular dystrophy is unknown. The html:p autosomal dominant EMD https://ghr.nlm.nih.gov/gene/EMD benign scapuloperoneal muscular dystrophy with early contractures db key 2017-06 2017-12-29
X-linked type of this disorder affects an estimated 1 in 100,000 people. The memo related-gene gene-symbol ghr-page EDMD GTR C0410189
prevalence of the autosomal dominant type is unknown, although it appears to be autosomal recessive FHL1 https://ghr.nlm.nih.gov/gene/FHL1 Emery-Dreifuss syndrome db key
more common than the X-linked type. The autosomal recessive type appears to be memo related-gene gene-symbol ghr-page muscular dystrophy, Emery-Dreifuss type GeneReviews edmd
very rare; only a few cases have been reported worldwide. X-linked recessive LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
related-gene gene-symbol ghr-page MeSH D020389
SYNE1 https://ghr.nlm.nih.gov/gene/SYNE1 db key
related-gene gene-symbol ghr-page OMIM 181350
html:p SYNE2 https://ghr.nlm.nih.gov/gene/SYNE2 db key
related-gene gene-symbol ghr-page OMIM 310300
TMEM43 https://ghr.nlm.nih.gov/gene/TMEM43 db key
OMIM 612998
db key
OMIM 612999
db key
html:p OMIM 614302
db key
OMIM 616516
db key
Orphanet 261
db key
Orphanet 98853
db key
Orphanet 98855
db key
Orphanet 98863
db key
related-gene-list SNOMED CT 111508004
Encephalocraniocutaneous lipomatosis https://ghr.nlm.nih.gov/condition/encephalocraniocutaneous-lipomatosis ECCL is a rare disorder. Fewer than 60 cases have been reported in the html:p not inherited FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 ECCL db key 2016-11 2017-12-29
medical literature. Fishman syndrome (formerly) GTR C0406612
Haberland syndrome (formerly) db key
MeSH D005128
html:p db key
MeSH D008068
db key
MeSH D020752
db key
OMIM 613001
db key
html:p Orphanet 2396
db key
SNOMED CT 238905009
html:p
html:p
related-gene-list
Enlarged parietal foramina https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina The prevalence of enlarged parietal foramina is estimated to be 1 in 15,000 html:p autosomal dominant ALX4 https://ghr.nlm.nih.gov/gene/ALX4 Catlin marks db key 2016-03 2017-12-29
to 50,000 individuals. related-gene gene-symbol ghr-page cranium bifidum GTR C1865044
MSX2 https://ghr.nlm.nih.gov/gene/MSX2 cranium bifidum occultum db key
fenestrae parietals symmetricae GTR C1868598
foramina parietalia permagna db key
FPP GTR C1868599
giant parietal foramina db key
hereditary cranium bifidum GeneReviews msx2
parietal foramina db key
html:p PFM MeSH D004413
symmetric parietal foramina db key
OMIM 168500
db key
OMIM 609597
db key
Orphanet 60015
html:p db key
SNOMED CT 718099006
related-gene-list
Eosinophil peroxidase deficiency https://ghr.nlm.nih.gov/condition/eosinophil-peroxidase-deficiency Approximately 100 individuals with eosinophil peroxidase deficiency have html:p autosomal recessive EPX https://ghr.nlm.nih.gov/gene/EPX EPXD db key 2014-12 2017-12-29
been described in the scientific literature. Based on blood test data, varying peroxidase and phospholipid deficiency in eosinophils GTR C1850000
estimates of the prevalence of the condition have been reported in specific Presentey anomaly db key
populations. Eosinophil peroxidase deficiency is estimated to occur in 8.6 in MeSH D007960
1,000 Yemenite Jews, in 3 in 1,000 North-African Jews, and in 1 in 1,000 Iraqi db key
Jews. In northeastern Italy, the condition occurs in approximately 1 in 14,000 OMIM 261500
individuals; in Japan it occurs in 1 in 36,000 people; and in Luxembourg, db key
eosinophil peroxidase deficiency is thought to occur in 1 in 100,000 people. SNOMED CT 711160007
html:p
related-gene-list
Epidermal nevus https://ghr.nlm.nih.gov/condition/epidermal-nevus Epidermal nevi are estimated to occur in 1 to 3 in 1,000 people. html:p not inherited FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 epidermal naevus db key 2016-08 2017-12-29
related-gene gene-symbol ghr-page GTR C0334082
FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 db key
related-gene gene-symbol ghr-page MeSH D009506
html:p HRAS https://ghr.nlm.nih.gov/gene/HRAS db key
related-gene gene-symbol ghr-page OMIM 162900
KRAS https://ghr.nlm.nih.gov/gene/KRAS db key
related-gene gene-symbol ghr-page Orphanet 35125
NRAS https://ghr.nlm.nih.gov/gene/NRAS db key
related-gene gene-symbol ghr-page SNOMED CT 239107007
PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA
html:p
html:p
related-gene-list
Epidermolysis bullosa simplex https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex The exact prevalence of epidermolysis bullosa simplex is unknown, but this html:p autosomal dominant KRT5 https://ghr.nlm.nih.gov/gene/KRT5 EBS db key 2013-05 2017-12-29
condition is estimated to affect 1 in 30,000 to 50,000 people. The localized memo related-gene gene-symbol ghr-page GTR C0079295
type is the most common form of the condition. autosomal recessive KRT14 https://ghr.nlm.nih.gov/gene/KRT14 db key
related-gene gene-symbol ghr-page GTR C0079298
PLEC https://ghr.nlm.nih.gov/gene/PLEC db key
GTR C0079299
db key
GTR C0080333
db key
GTR C0432316
html:p db key
GTR C0432317
db key
GTR C1832926
db key
html:p GeneReviews ebs
db key
ICD-10-CM Q81.0
db key
MeSH D016110
html:p db key
OMIM 131760
db key
OMIM 131800
db key
html:p OMIM 131900
db key
OMIM 131950
db key
html:p OMIM 131960
db key
OMIM 601001
db key
html:p OMIM 609352
db key
Orphanet 304
db key
SNOMED CT 254180002
db key
html:p SNOMED CT 398071000
db key
SNOMED CT 67144006
db key
related-gene-list SNOMED CT 90496008
Epidermolysis bullosa with pyloric atresia https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia EB-PA appears to be a rare condition, although its prevalence is unknown. html:p autosomal recessive ITGA6 https://ghr.nlm.nih.gov/gene/ITGA6 Carmi syndrome db key 2009-09 2017-12-29
At least 50 affected individuals have been reported worldwide. related-gene gene-symbol ghr-page EB-PA GTR C1856934
ITGB4 https://ghr.nlm.nih.gov/gene/ITGB4 junctional epidermolysis bullosa with pyloric atresia db key
related-gene gene-symbol ghr-page PA-JEB GTR C2677349
PLEC https://ghr.nlm.nih.gov/gene/PLEC db key
GeneReviews eb-pa
db key
ICD-10-CM Q81.0
html:p db key
MeSH D004820
db key
OMIM 226730
db key
OMIM 612138
html:p db key
Orphanet 158684
db key
Orphanet 79403
db key
html:p SNOMED CT 53748002
related-gene-list
Epidermolytic hyperkeratosis https://ghr.nlm.nih.gov/condition/epidermolytic-hyperkeratosis Epidermolytic hyperkeratosis affects approximately 1 in 200,000 to 300,000 html:p autosomal dominant KRT1 https://ghr.nlm.nih.gov/gene/KRT1 BCIE db key 2011-11 2017-12-29
people worldwide. memo related-gene gene-symbol ghr-page BIE GTR C0079153
autosomal recessive KRT10 https://ghr.nlm.nih.gov/gene/KRT10 bullous congenital ichthyosiform erythroderma db key
bullous erythroderma ichthyosiforme ICD-10-CM Q80.3
bullous erythroderma ichthyosiformis congenita of Brocq db key
html:p bullous ichthyosiform erythroderma MeSH D017488
EHK db key
epidermolytic ichthyosis OMIM 113800
hyperkeratosis, epidermolytic db key
SNOMED CT 254167000
html:p
html:p
related-gene-list
-aphasia spectrum https://ghr.nlm.nih.gov/condition/-aphasia-spectrum The prevalence of the -aphasia spectrum is unknown. Most of the html:p autosomal dominant GRIN2A https://ghr.nlm.nih.gov/gene/GRIN2A acquired aphasia with db key 2016-11 2017-12-29
conditions in the spectrum are rare; however, CECTS is one of the most common FESD GTR CN181337
forms of in children, accounting for 8 to 25 percent of cases. It is focal epilepsies with and disorders db key
estimated to occur in 1 in 5,000 children younger than 16. focal with disorder and with or without mental retardation MeSH D004827
db key
MeSH D007805
db key
MeSH D013064
db key
MeSH D018887
db key
MeSH D019305
db key
OMIM 245570
html:p db key
Orphanet 725
db key
Orphanet 1945
db key
html:p Orphanet 98818
db key
SNOMED CT 230384001
db key
SNOMED CT 230438007
db key
SNOMED CT 230439004
db key
html:p SNOMED CT 44145005
html:p
html:p
related-gene-list
Episodic ataxia https://ghr.nlm.nih.gov/condition/episodic-ataxia Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. Only html:p autosomal dominant CACNA1A https://ghr.nlm.nih.gov/gene/CACNA1A EA db key 2008-08 2017-12-29
types 1 and 2 have been identified in more than one family, and type 2 is by related-gene gene-symbol ghr-page GTR C1719788
far the most common form of the condition. CACNB4 https://ghr.nlm.nih.gov/gene/CACNB4 db key
related-gene gene-symbol ghr-page GTR C1720416
KCNA1 https://ghr.nlm.nih.gov/gene/KCNA1 db key
related-gene gene-symbol ghr-page GTR C1847839
SLC1A3 https://ghr.nlm.nih.gov/gene/SLC1A3 db key
GTR C1847843
db key
GTR C2677843
html:p db key
GeneReviews ea1
db key
GeneReviews ea2
db key
MeSH D001259
html:p db key
OMIM 108500
db key
OMIM 160120
db key
OMIM 600111
db key
OMIM 601949
db key
OMIM 606552
db key
OMIM 606554
db key
OMIM 611907
db key
Orphanet 79135
db key
Orphanet 79136
db key
SNOMED CT 420932006
db key
SNOMED CT 421182009
db key
related-gene-list SNOMED CT 421455009
Erdheim-Chester disease https://ghr.nlm.nih.gov/condition/erdheim-chester-disease Erdheim-Chester disease is a rare disorder; its exact prevalence is html:p not inherited BRAF https://ghr.nlm.nih.gov/gene/BRAF lipid granulomatosis db key 2017-04 2017-12-29
unknown. More than 500 affected individuals worldwide have been described in the polyostotic sclerosing histiocytosis MeSH D031249
medical literature. For unknown reasons, men are slightly more likely to db key
develop the disease, accounting for about 60 percent of cases. Orphanet 35687
db key
SNOMED CT 703711007
html:p
html:p
related-gene-list
Erythrokeratodermia variabilis et progressiva https://ghr.nlm.nih.gov/condition/erythrokeratodermia-variabilis-et-progressiva EKVP is a rare disorder; its prevalence is unknown. html:p autosomal dominant GJB3 https://ghr.nlm.nih.gov/gene/GJB3 EKV db key 2014-01 2017-12-29
memo related-gene gene-symbol ghr-page EKV-P GTR C0265961
autosomal recessive GJB4 https://ghr.nlm.nih.gov/gene/GJB4 EKVP db key
erythrokeratodermia variabilis MeSH D056266
erythrokeratodermia variabilis of Mendes da Costa db key
erythrokeratodermia, progressive symmetric OMIM 133200
progressive symmetrical erythrokeratoderma of Gottron db key
OMIM 617524
db key
OMIM 617525
html:p db key
OMIM 617526
db key
OMIM 617756
db key
Orphanet 316
db key
Orphanet 317
db key
related-gene-list SNOMED CT 70041004
Erythromelalgia https://ghr.nlm.nih.gov/condition/erythromelalgia The prevalence of erythromelalgia is unknown. html:p autosomal dominant SCN9A https://ghr.nlm.nih.gov/gene/SCN9A erythermalgia db key 2016-02 2017-12-29
familial erythromelalgia GTR C0014805
primary erythromelalgia db key
GeneReviews etha
db key
ICD-10-CM I73.81
db key
MeSH D004916
html:p db key
OMIM 133020
db key
Orphanet 1956
db key
html:p SNOMED CT 37151006
db key
SNOMED CT 403390002
synonym-list db-key-list
Esophageal atresia/tracheoesophageal fistula https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula EA/TEF occurs in 1 in 3,000 to 5,000 newborns. html:p not inherited key 2017-12-29
db-key C1861028
key
db-key tef-ov
key
db-key Q39.0
html:p key
db-key Q39.1
key
db-key D004933
key
db-key 189960
html:p key
db-key 1199
key
26179002
html:p
html:p
related-gene-list
Essential pentosuria https://ghr.nlm.nih.gov/condition/essential-pentosuria Essential pentosuria occurs almost exclusively in individuals with html:p autosomal recessive DCXR https://ghr.nlm.nih.gov/gene/DCXR essential benign pentosuria db key 2015-01 2017-12-29
Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population L-xylulose reductase deficiency GTR C0268162
are affected. L-xylulosuria db key
pentosuria MeSH D002239
xylitol dehydrogenase deficiency db key
OMIM 260800
db key
Orphanet 2843
db key
related-gene-list SNOMED CT 190764000
Essential thrombocythemia https://ghr.nlm.nih.gov/condition/essential-thrombocythemia Essential thrombocythemia affects an estimated 1 to 24 per 1 million people html:p autosomal dominant CALR https://ghr.nlm.nih.gov/gene/CALR essential thrombocytosis db key 2014-09 2017-12-29
worldwide. related-gene gene-symbol ghr-page primary thrombocythemia GTR C0040028
JAK2 https://ghr.nlm.nih.gov/gene/JAK2 primary thrombocytosis db key
related-gene gene-symbol ghr-page ICD-10-CM D47.3
html:p MPL https://ghr.nlm.nih.gov/gene/MPL db key
related-gene gene-symbol ghr-page MeSH D013920
TET2 https://ghr.nlm.nih.gov/gene/TET2 db key
related-gene gene-symbol ghr-page OMIM 187950
THPO https://ghr.nlm.nih.gov/gene/THPO db key
SNOMED CT 109994006
db key
html:p SNOMED CT 128844009
html:p
synonym-list db-key-list
https://ghr.nlm.nih.gov/condition/essential- is a common disorder, affecting up to 10 million people in html:p autosomal dominant synonym familial key 2017-12-29
the United States. Estimates of its prevalence vary widely because several memo synonym hereditary db-key C1860861
other disorders, as well as other factors such as certain medications, can pattern unknown key
result in similar s. In addition, mild cases are often not brought to db-key G25.0
medical attention, or may not be detected in clinical exams that do not include key
the particular circumstances in which an individual's occurs. Severe db-key D020329
cases are often misdiagnosed as Parkinson disease. html:p key
db-key 190300
key
609558009
html:p
html:p
html:p
related-gene-list
Ethylmalonic encephalopathy https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy About 70 individuals with this condition have been identified worldwide, html:p autosomal recessive ETHE1 https://ghr.nlm.nih.gov/gene/ETHE1 encephalopathy, petechiae, and ethylmalonic aciduria db key 2017-08 2017-12-29
mostly in Mediterranean and Arab populations. Although ethylmalonic EPEMA syndrome GTR C1865349
encephalopathy appears to be very rare, researchers suggest that some cases have db key
been misdiagnosed as other neurological disorders. GeneReviews ee
db key
MeSH D001928
db key
OMIM 602473
db key
html:p Orphanet 51188
db key
SNOMED CT 811000124106
related-gene-list
Ewing sarcoma https://ghr.nlm.nih.gov/condition/ewing-sarcoma Approximately 3 per 1 million children each year are diagnosed with a Ewing html:p not inherited ERG https://ghr.nlm.nih.gov/gene/ERG Ewing family of tumors db key 2016-06 2017-12-29
sarcoma. It is estimated that, in the United States, 250 children are diagnosed related-gene gene-symbol ghr-page Ewing tumor GTR C0553580
with one of these types of tumor each year. Ewing sarcoma accounts for about ETV1 https://ghr.nlm.nih.gov/gene/ETV1 Ewing's sarcoma db key
1.5 percent of all childhood cancers, and it is the second most common type of related-gene gene-symbol ghr-page Ewing's tumor MeSH D012512
bone tumor in children (the most common type of bone cancer is called ETV4 https://ghr.nlm.nih.gov/gene/ETV4 tumor of the Ewing family db key
osteosarcoma). related-gene gene-symbol ghr-page OMIM 612219
EWSR1 https://ghr.nlm.nih.gov/gene/EWSR1 db key
related-gene gene-symbol ghr-page Orphanet 319
FEV https://ghr.nlm.nih.gov/gene/FEV db key
related-gene gene-symbol ghr-page SNOMED CT 128783001
FLI1 https://ghr.nlm.nih.gov/gene/FLI1 db key
related-gene gene-symbol ghr-page SNOMED CT 307608006
html:p FUS https://ghr.nlm.nih.gov/gene/FUS db key
related-chromosome name ghr-page SNOMED CT 447951009
11 https://ghr.nlm.nih.gov/chromosome/11 db key
related-chromosome name ghr-page SNOMED CT 76909002
22 https://ghr.nlm.nih.gov/chromosome/22
html:p
related-gene-list
Fabry disease https://ghr.nlm.nih.gov/condition/fabry-disease Fabry disease affects an estimated 1 in 40,000 to 60,000 males. This html:p X-linked recessive GLA https://ghr.nlm.nih.gov/gene/GLA alpha-galactosidase A deficiency db key 2012-02 2017-12-29
disorder also occurs in females, although the prevalence is unknown. Milder, Anderson-Fabry disease GTR C0002986
late-onset forms of the disorder are probably more common than the classic, angiokeratoma corporis diffusum db key
severe form. angiokeratoma diffuse GeneReviews fabry
ceramide trihexosidase deficiency db key
Fabry's disease ICD-10-CM E75.21
GLA deficiency db key
hereditary dystopic lipidosis MeSH D000795
db key
Orphanet 324
db key
SNOMED CT 124464003
db key
related-gene-list SNOMED CT 16652001
Facioscapulohumeral muscular dystrophy https://ghr.nlm.nih.gov/condition/facioscapulohumeral-muscular-dystrophy Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in html:p autosomal dominant DUX4 https://ghr.nlm.nih.gov/gene/DUX4 facio-scapulo-humeral dystrophy db key 2014-08 2017-12-29
20,000 people. About 95 percent of all cases are FSHD1; the remaining 5 percent related-gene gene-symbol ghr-page facioscapulohumeral atrophy GTR C0238288
are FSHD2. SMCHD1 https://ghr.nlm.nih.gov/gene/SMCHD1 facioscapulohumeral type progressive muscular dystrophy db key
related-chromosome name ghr-page facioscapuloperoneal muscular dystrophy GTR C1834671
4 https://ghr.nlm.nih.gov/chromosome/4 FSH muscular dystrophy db key
FSHD GeneReviews fsh
muscular dystrophy, facioscapulohumeral db key
MeSH D020391
html:p db key
OMIM 158900
db key
OMIM 158901
db key
Orphanet 269
db key
SNOMED CT 399091004
html:p
html:p
html:p
related-gene-list
Factor V deficiency https://ghr.nlm.nih.gov/condition/factor-v-deficiency Factor V deficiency affects an estimated 1 in 1 million people. This html:p autosomal recessive F5 https://ghr.nlm.nih.gov/gene/F5 labile factor deficiency db key 2013-05 2017-12-29
condition is more common in countries such as Iran and southern India, where it Owren disease GTR C0015499
occurs up to ten times more frequently than in western countries. Owren's disease db key
parahemophilia MeSH D005166
proaccelerin deficiency db key
OMIM 227400
db key
Orphanet 326
db key
SNOMED CT 4320005
related-gene-list
Factor V Leiden thrombophilia https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia Factor V Leiden is the most common inherited form of thrombophilia. Between html:p pattern unknown F5 https://ghr.nlm.nih.gov/gene/F5 APC resistance, Leiden type db key 2010-08 2017-12-29
3 and 8 percent of people with European ancestry carry one copy of the factor V Hereditary resistance to activated protein C GTR C1861171
Leiden mutation in each cell, and about 1 in 5,000 people have two copies of db key
the mutation. The mutation is less common in other populations. GTR C2674152
html:p db key
GeneReviews factor-v-leiden
db key
ICD-10-CM D68.51
db key
MeSH D020016
db key
OMIM 188055
db key
html:p SNOMED CT 421527008
related-gene-list
Factor VII deficiency https://ghr.nlm.nih.gov/condition/factor-vii-deficiency Factor VII deficiency is estimated to affect 1 in 300,000 to 1 in 500,000 html:p autosomal recessive F7 https://ghr.nlm.nih.gov/gene/F7 F7 deficiency db key 2016-10 2017-12-29
people. It is the most frequently occurring of a group of disorders classified memo hypoproconvertinemia GTR C0015503
as rare bleeding disorders. not inherited proconvertin deficiency db key
prothrombin conversion accelerator deficiency MeSH D005168
serum prothrombin conversion accelerator deficiency db key
OMIM 227500
db key
Orphanet 327
db key
SNOMED CT 37193007
related-gene-list
Factor X deficiency https://ghr.nlm.nih.gov/condition/factor-x-deficiency Factor X deficiency occurs in approximately 1 per million individuals html:p autosomal recessive F10 https://ghr.nlm.nih.gov/gene/F10 congenital Stuart factor deficiency db key 2015-01 2017-12-29
worldwide. memo F10 deficiency GTR C0015519
not inherited Stuart-Prower factor deficiency db key
ICD-10-CM D68.2
db key
MeSH D005171
db key
OMIM 227600
db key
Orphanet 328
db key
SNOMED CT 76642003
related-gene-list
Factor XI deficiency https://ghr.nlm.nih.gov/condition/factor-xi-deficiency Factor XI deficiency is estimated to affect approximately 1 in 1 million html:p autosomal dominant F11 https://ghr.nlm.nih.gov/gene/F11 F11 deficiency db key 2017-05 2017-12-29
people worldwide. The severe deficiency disorder is much more common in people memo factor 11 deficiency GTR C0015523
with central and eastern European (Ashkenazi) Jewish ancestry, occurring in autosomal recessive haemophilia C db key
about 1 in 450 individuals in that population. Researchers suggest that the hemophilia C ICD-10-CM D68.1
actual prevalence of factor XI deficiency may be higher than reported, because plasma thromboplastin antecedent deficiency db key
mild cases of the disorder often do not come to medical attention. PTA deficiency MeSH D005173
Rosenthal factor deficiency db key
Rosenthal syndrome OMIM 612416
Rosenthal's disease db key
Orphanet 329
db key
html:p SNOMED CT 49762007
related-gene-list
Factor XIII deficiency https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency Inherited factor XIII deficiency affects 1 to 3 per million people html:p autosomal recessive F13A1 https://ghr.nlm.nih.gov/gene/F13A1 deficiency of factor XIII db key 2015-09 2017-12-29
worldwide. Researchers suspect that mild factor XIII deficiency, including the related-gene gene-symbol ghr-page deficiency, Laki-Lorand factor GTR C2750481
acquired form of the disorder, is underdiagnosed because many affected people F13B https://ghr.nlm.nih.gov/gene/F13B fibrin stabilizing factor deficiency db key
never have a major episode of abnormal bleeding that would lead to a diagnosis. html:p GTR C2750514
db key
MeSH D005177
db key
OMIM 613225
db key
OMIM 613235
db key
Orphanet 331
db key
SNOMED CT 18604004
html:p
inheritance-pattern-list related-gene-list
Familial acute myeloid leukemia with mutated CEBPA https://ghr.nlm.nih.gov/condition/familial-acute-myeloid-leukemia-with-mutated-c Acute myeloid leukemia occurs in approximately 3.5 in 100,000 individuals html:p ad autosomal dominant ghr-page CEBPA-dependent familial acute myeloid leukemia db-key db key 2015-07 2017-12-29
ebpa per year. Familial acute myeloid leukemia with mutated CEBPA is a very rare form https://ghr.nlm.nih.gov/gene/CEBPA familial acute myeloid leukaemia GTR C0023467
of acute myeloid leukemia; only a few affected families have been identified. db-key db key
GeneReviews cebpa-aml
db-key db key
MeSH D015470
db-key db key
OMIM 601626
db-key db key
Orphanet 519
db-key db key
html:p SNOMED CT 397340004
html:p
related-gene-list
Familial adenomatous polyposis https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis The reported incidence of familial adenomatous polyposis varies from 1 in html:p autosomal dominant APC https://ghr.nlm.nih.gov/gene/APC adenomatous familial polyposis db key 2013-10 2017-12-29
7,000 to 1 in 22,000 individuals. memo related-gene gene-symbol ghr-page adenomatous familial polyposis syndrome GTR C0032580
autosomal recessive MUTYH https://ghr.nlm.nih.gov/gene/MUTYH adenomatous polyposis coli db key
familial multiple polyposis syndrome GTR C1837991
FAP db key
MYH-associated polyposis GTR C1851124
db key
GTR C2713442
db key
GeneReviews fap
html:p db key
GeneReviews maps
db key
MeSH D011125
db key
OMIM 135290
db key
OMIM 175100
db key
OMIM 608456
db key
html:p Orphanet 733
db key
SNOMED CT 423471004
db key
SNOMED CT 72900001
related-gene-list
Familial atrial fibrillation https://ghr.nlm.nih.gov/condition/familial-atrial-fibrillation Atrial fibrillation is the most common type of recurrent arrhythmia, html:p autosomal dominant ABCC9 https://ghr.nlm.nih.gov/gene/ABCC9 atrial fibrillation, familial db key 2017-10 2017-12-29
affecting more than 3 million people in the United States. The risk of related-gene gene-symbol ghr-page auricular fibrillation GTR C1837014
developing this irregular heart rhythm increases with age. The incidence of the GJA5 https://ghr.nlm.nih.gov/gene/GJA5 db key
familial form of atrial fibrillation is unknown; however, recent studies suggest related-gene gene-symbol ghr-page GTR C1837812
that up to 30 percent of all people who have atrial fibrillation without an KCNA5 https://ghr.nlm.nih.gov/gene/KCNA5 db key
identified cause have a history of the condition in their family. related-gene gene-symbol ghr-page GTR C1843687
KCNE2 https://ghr.nlm.nih.gov/gene/KCNE2 db key
related-gene gene-symbol ghr-page GTR C1862394
KCNH2 https://ghr.nlm.nih.gov/gene/KCNH2 db key
related-gene gene-symbol ghr-page GTR C1969099
KCNJ2 https://ghr.nlm.nih.gov/gene/KCNJ2 db key
related-gene gene-symbol ghr-page GTR C2677106
KCNQ1 https://ghr.nlm.nih.gov/gene/KCNQ1 db key
related-gene gene-symbol ghr-page GTR C2677294
LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
related-gene gene-symbol ghr-page GTR C2751607
MYL4 https://ghr.nlm.nih.gov/gene/MYL4 db key
related-gene gene-symbol ghr-page GTR C3151431
NKX2-5 https://ghr.nlm.nih.gov/gene/NKX2-5 db key
related-gene gene-symbol ghr-page GTR C3279693
NPPA https://ghr.nlm.nih.gov/gene/NPPA db key
related-gene gene-symbol ghr-page GTR C3279695
NUP155 https://ghr.nlm.nih.gov/gene/NUP155 db key
related-gene gene-symbol ghr-page GTR C3809311
PRKAG2 https://ghr.nlm.nih.gov/gene/PRKAG2 db key
related-gene gene-symbol ghr-page GTR C3809312
RYR2 https://ghr.nlm.nih.gov/gene/RYR2 db key
related-gene gene-symbol ghr-page GTR C4014269
SCN1B https://ghr.nlm.nih.gov/gene/SCN1B db key
related-gene gene-symbol ghr-page GTR C4310636
SCN2B https://ghr.nlm.nih.gov/gene/SCN2B db key
related-gene gene-symbol ghr-page GTR CN196901
SCN3B https://ghr.nlm.nih.gov/gene/SCN3B db key
related-gene gene-symbol ghr-page GTR CN204347
SCN4B https://ghr.nlm.nih.gov/gene/SCN4B db key
related-gene gene-symbol ghr-page GTR CN220307
SCN5A https://ghr.nlm.nih.gov/gene/SCN5A db key
ICD-10-CM I48
db key
ICD-10-CM I48.3
db key
ICD-10-CM I48.4
db key
ICD-10-CM I48.9
db key
MeSH D001281
db key
OMIM 607554
db key
OMIM 608583
db key
OMIM 608988
db key
OMIM 611493
db key
OMIM 611494
db key
OMIM 612201
db key
OMIM 612240
db key
OMIM 613055
db key
OMIM 613980
db key
OMIM 614022
db key
OMIM 614049
db key
OMIM 614050
db key
OMIM 615377
db key
OMIM 615378
db key
OMIM 615770
db key
OMIM 617280
db key
Orphanet 334
db key
inheritance-pattern-list related-gene-list SNOMED CT 49436004
Familial candidiasis https://ghr.nlm.nih.gov/condition/familial-candidiasis Candida is present on the skin and mucous membranes of up to half the html:p ad autosomal dominant ghr-page familial chronic mucocutaneous candidiasis db-key db key 2016-09 2017-12-29
population at any given time, normally without creating health problems. The inheritance-pattern code memo related-gene https://ghr.nlm.nih.gov/gene/CARD9 GTR C0341024
prevalence of the inherited susceptibility to Candida infections that ar autosomal recessive ghr-page db-key db key
characterizes familial candidiasis is unknown, but the condition is thought to related-gene https://ghr.nlm.nih.gov/gene/CLEC7A ICD-10-CM B37
be rare. ghr-page db-key db key
related-gene https://ghr.nlm.nih.gov/gene/IL17F MeSH D002178
html:p ghr-page db-key db key
related-gene https://ghr.nlm.nih.gov/gene/IL17RA OMIM 114580
ghr-page db-key db key
related-gene https://ghr.nlm.nih.gov/gene/IL17RC OMIM 212050
ghr-page db-key db key
related-gene https://ghr.nlm.nih.gov/gene/RORC OMIM 607644
html:p ghr-page db-key db key
related-gene https://ghr.nlm.nih.gov/gene/STAT1 OMIM 613108
ghr-page db-key db key
https://ghr.nlm.nih.gov/gene/TRAF3IP2 OMIM 613953
db-key db key
OMIM 613956
db-key db key
OMIM 614162
db-key db key
html:p OMIM 615527
db-key db key
OMIM 616445
db-key db key
OMIM 616622
html:p db-key db key
Orphanet 1334
db-key db key
SNOMED CT 235073000
related-gene-list
Familial cold autoinflammatory syndrome https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome Familial cold autoinflammatory syndrome is a very rare condition, believed html:p autosomal dominant NLRP3 https://ghr.nlm.nih.gov/gene/NLRP3 cold hypersensitivity db key 2014-12 2017-12-29
to have a prevalence of less than 1 per million people. related-gene gene-symbol ghr-page familial cold-induced autoinflammatory syndrome GTR C0343068
NLRP12 https://ghr.nlm.nih.gov/gene/NLRP12 familial cold urticaria db key
html:p FCAS GTR C2673198
FCU db key
MeSH D056587
db key
html:p OMIM 120100
db key
OMIM 611762
db key
html:p Orphanet 47045
db key
SNOMED CT 238687000
related-gene-list
Familial cylindromatosis https://ghr.nlm.nih.gov/condition/familial-cylindromatosis Familial cylindromatosis is a rare disorder; its prevalence is unknown. html:p autosomal dominant CYLD https://ghr.nlm.nih.gov/gene/CYLD Ancell-Spiegler cylindromas db key 2012-06 2017-12-29
cylindromatosis, familial GTR C1851526
dermal eccrine cylindroma db key
turban tumor syndrome MeSH D012878
db key
OMIM 132700
html:p db key
SNOMED CT 447147008
html:p
html:p
related-gene-list
Familial dilated cardiomyopathy https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy It is estimated that 750,000 people in the United States have dilated html:p autosomal dominant ABCC9 https://ghr.nlm.nih.gov/gene/ABCC9 congestive cardiomyopathy db key 2017-04 2017-12-29
cardiomyopathy; roughly half of these cases are familial. memo related-gene gene-symbol ghr-page familial idiopathic cardiomyopathy GTR C0007193
autosomal recessive ACTC1 https://ghr.nlm.nih.gov/gene/ACTC1 FDC db key
memo related-gene gene-symbol ghr-page primary familial dilated cardiomyopathy GeneReviews dbmd
X-linked dominant ACTN2 https://ghr.nlm.nih.gov/gene/ACTN2 db key
related-gene gene-symbol ghr-page GeneReviews dcm-lmna
ANKRD1 https://ghr.nlm.nih.gov/gene/ANKRD1 db key
html:p related-gene gene-symbol ghr-page GeneReviews dcm-ov
BAG3 https://ghr.nlm.nih.gov/gene/BAG3 db key
related-gene gene-symbol ghr-page ICD-10-CM I42.0
CRYAB https://ghr.nlm.nih.gov/gene/CRYAB db key
related-gene gene-symbol ghr-page MeSH D002311
CSRP3 https://ghr.nlm.nih.gov/gene/CSRP3 db key
related-gene gene-symbol ghr-page OMIM 115200
DES https://ghr.nlm.nih.gov/gene/DES db key
related-gene gene-symbol ghr-page OMIM 302045
DMD https://ghr.nlm.nih.gov/gene/DMD db key
related-gene gene-symbol ghr-page OMIM 600884
DSG2 https://ghr.nlm.nih.gov/gene/DSG2 db key
related-gene gene-symbol ghr-page OMIM 601154
EYA4 https://ghr.nlm.nih.gov/gene/EYA4 db key
related-gene gene-symbol ghr-page OMIM 601493
GATAD1 https://ghr.nlm.nih.gov/gene/GATAD1 db key
related-gene gene-symbol ghr-page OMIM 601494
LAMA4 https://ghr.nlm.nih.gov/gene/LAMA4 db key
related-gene gene-symbol ghr-page OMIM 604145
LDB3 https://ghr.nlm.nih.gov/gene/LDB3 db key
related-gene gene-symbol ghr-page OMIM 604288
LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
related-gene gene-symbol ghr-page OMIM 604765
MYBPC3 https://ghr.nlm.nih.gov/gene/MYBPC3 db key
related-gene gene-symbol ghr-page OMIM 605362
MYH6 https://ghr.nlm.nih.gov/gene/MYH6 db key
related-gene gene-symbol ghr-page OMIM 605582
MYH7 https://ghr.nlm.nih.gov/gene/MYH7 db key
related-gene gene-symbol ghr-page OMIM 606685
MYPN https://ghr.nlm.nih.gov/gene/MYPN db key
related-gene gene-symbol ghr-page OMIM 607482
PLN https://ghr.nlm.nih.gov/gene/PLN db key
related-gene gene-symbol ghr-page OMIM 607487
PSEN1 https://ghr.nlm.nih.gov/gene/PSEN1 db key
related-gene gene-symbol ghr-page OMIM 608569
PSEN2 https://ghr.nlm.nih.gov/gene/PSEN2 db key
related-gene gene-symbol ghr-page OMIM 609909
RBM20 https://ghr.nlm.nih.gov/gene/RBM20 db key
related-gene gene-symbol ghr-page OMIM 609915
SCN5A https://ghr.nlm.nih.gov/gene/SCN5A db key
related-gene gene-symbol ghr-page OMIM 611407
SGCD https://ghr.nlm.nih.gov/gene/SGCD db key
related-gene gene-symbol ghr-page OMIM 611878
TAZ https://ghr.nlm.nih.gov/gene/TAZ db key
related-gene gene-symbol ghr-page OMIM 611879
TCAP https://ghr.nlm.nih.gov/gene/TCAP db key
related-gene gene-symbol ghr-page OMIM 611880
TMPO https://ghr.nlm.nih.gov/gene/TMPO db key
related-gene gene-symbol ghr-page OMIM 612158
TNNC1 https://ghr.nlm.nih.gov/gene/TNNC1 db key
related-gene gene-symbol ghr-page OMIM 612877
TNNI3 https://ghr.nlm.nih.gov/gene/TNNI3 db key
related-gene gene-symbol ghr-page OMIM 613172
TNNT2 https://ghr.nlm.nih.gov/gene/TNNT2 db key
related-gene gene-symbol ghr-page OMIM 613252
TPM1 https://ghr.nlm.nih.gov/gene/TPM1 db key
related-gene gene-symbol ghr-page OMIM 613424
TTN https://ghr.nlm.nih.gov/gene/TTN db key
related-gene gene-symbol ghr-page OMIM 613426
VCL https://ghr.nlm.nih.gov/gene/VCL db key
OMIM 613694
db key
OMIM 613697
db key
OMIM 613881
db key
OMIM 614672
db key
OMIM 614672
db key
OMIM 615184
db key
OMIM 615235
db key
OMIM 615248
db key
OMIM 615396
db key
Orphanet 154
db key
related-gene-list SNOMED CT 52029003
Familial dysautonomia https://ghr.nlm.nih.gov/condition/familial-dysautonomia Familial dysautonomia occurs primarily in people of Ashkenazi (central or html:p autosomal recessive ELP1 https://ghr.nlm.nih.gov/gene/ELP1 FD db key 2013-08 2017-12-29
eastern European) Jewish descent. It affects about 1 in 3,700 individuals in HSAN Type III GTR C0013364
Ashkenazi Jewish populations. Familial dysautonomia is extremely rare in the HSAN3 db key
general population. HSN-III GeneReviews fd
Riley-Day Syndrome db key
ICD-10-CM G90.1
db key
MeSH D004402
html:p db key
OMIM 223900
db key
Orphanet 1764
db key
SNOMED CT 29159009
html:p
related-gene-list
Familial encephalopathy with neuroserpin inclusion bodies https://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclu This condition appears to be rare; only a few affected individuals have html:p autosomal dominant SERPINI1 https://ghr.nlm.nih.gov/gene/SERPINI1 familial dementia with neuroserpin inclusion bodies db key 2009-04 2017-12-29
sion-bodies been reported worldwide. FENIB GTR C1858680
db key
MeSH D004831
db key
MeSH D020271
db key
OMIM 604218
html:p db key
Orphanet 85110
db key
SNOMED CT 702421006
related-gene-list
Familial erythrocytosis https://ghr.nlm.nih.gov/condition/familial-erythrocytosis Familial erythrocytosis is a rare condition; its prevalence is unknown. html:p autosomal dominant EGLN1 https://ghr.nlm.nih.gov/gene/EGLN1 benign familial polycythemia db key 2012-08 2017-12-29
memo related-gene gene-symbol ghr-page congenital erythrocytosis GTR C1837915
autosomal recessive EPAS1 https://ghr.nlm.nih.gov/gene/EPAS1 familial polycythemia db key
related-gene gene-symbol ghr-page hereditary erythrocytosis GTR C1851490
EPOR https://ghr.nlm.nih.gov/gene/EPOR primary familial polycythemia db key
related-gene gene-symbol ghr-page GTR C1853286
VHL https://ghr.nlm.nih.gov/gene/VHL db key
GTR C2673187
db key
GeneReviews pfcp
db key
ICD-10-CM D75.0
db key
MeSH D011086
db key
OMIM 133100
db key
OMIM 263400
db key
OMIM 609820
db key
OMIM 611783
db key
Orphanet 90042
db key
related-gene-list SNOMED CT 17342003
Familial exudative vitreoretinopathy https://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy The prevalence of familial exudative vitreoretinopathy is unknown. It html:p autosomal dominant FZD4 https://ghr.nlm.nih.gov/gene/FZD4 FEVR db key 2009-02 2017-12-29
appears to be rare, although affected people with normal vision may never come memo related-gene gene-symbol ghr-page GTR C1844579
to medical attention. autosomal recessive LRP5 https://ghr.nlm.nih.gov/gene/LRP5 db key
memo related-gene gene-symbol ghr-page GTR C1851402
X-linked recessive NDP https://ghr.nlm.nih.gov/gene/NDP db key
html:p GTR C1854002
db key
GTR C1866176
db key
GeneReviews fevr
db key
GeneReviews norrie
db key
html:p MeSH D012164
db key
OMIM 133780
db key
OMIM 305390
db key
OMIM 601813
db key
OMIM 605750
db key
Orphanet 891
db key
related-gene-list SNOMED CT 232063007
Familial focal with variable foci https://ghr.nlm.nih.gov/condition/familial-focal--with-variable-foci The prevalence of FFEVF is unknown. html:p autosomal dominant DEPDC5 https://ghr.nlm.nih.gov/gene/DEPDC5 familial partial with variable foci db key 2017-03 2017-12-29
related-gene gene-symbol ghr-page FFEVF GTR C1858477
NPRL2 https://ghr.nlm.nih.gov/gene/NPRL2 partial with variable foci db key
related-gene gene-symbol ghr-page GTR C4310708
NPRL3 https://ghr.nlm.nih.gov/gene/NPRL3 db key
GTR C4310709
db key
GeneReviews depdc5-
db key
MeSH D004828
db key
OMIM 604364
html:p db key
OMIM 617116
db key
html:p OMIM 617118
db key
Orphanet 98820
html:p
related-gene-list
Familial glucocorticoid deficiency https://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency The prevalence of familial glucocorticoid deficiency is unknown. html:p autosomal recessive MC2R https://ghr.nlm.nih.gov/gene/MC2R ACTH resistance db key 2015-02 2017-12-29
related-gene gene-symbol ghr-page adrenal unresponsiveness to ACTH GTR C1836621
MCM4 https://ghr.nlm.nih.gov/gene/MCM4 glucocorticoid deficiency db key
related-gene gene-symbol ghr-page hereditary unresponsiveness to adrenocorticotropic hormone GTR C1846284
MRAP https://ghr.nlm.nih.gov/gene/MRAP isolated glucocorticoid deficiency db key
related-gene gene-symbol ghr-page GTR C1859974
html:p NNT https://ghr.nlm.nih.gov/gene/NNT db key
related-gene gene-symbol ghr-page GTR C1864947
TXNRD2 https://ghr.nlm.nih.gov/gene/TXNRD2 db key
GTR C3553587
db key
MeSH D000309
db key
OMIM 202200
db key
OMIM 607398
html:p db key
OMIM 609197
db key
OMIM 609981
db key
OMIM 614736
db key
Orphanet 361
db key
related-gene-list SNOMED CT 71974009
Familial HDL deficiency https://ghr.nlm.nih.gov/condition/familial-hdl-deficiency Familial HDL deficiency is a rare disorder, although the prevalence is html:p autosomal dominant ABCA1 https://ghr.nlm.nih.gov/gene/ABCA1 familial hypoalphalipoproteinemia db key 2012-11 2017-12-29
unknown. related-gene gene-symbol ghr-page FHA GTR C1704429
APOA1 https://ghr.nlm.nih.gov/gene/APOA1 HDL deficiency, type 2 db key
HDLD MeSH D052456
low serum HDL cholesterol db key
primary hypoalphalipoproteinemia OMIM 604091
db key
SNOMED CT 15346004
db key
html:p SNOMED CT 190785000
related-gene-list
Familial hemiplegic migraine https://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine The worldwide prevalence of familial hemiplegic migraine is unknown. html:p autosomal dominant ATP1A2 https://ghr.nlm.nih.gov/gene/ATP1A2 hemiplegic migraine, familial db key 2014-01 2017-12-29
Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic related-gene gene-symbol ghr-page hemiplegic-ophthalmoplegic migraine GTR C0338484
migraine and that the condition occurs equally in families with multiple CACNA1A https://ghr.nlm.nih.gov/gene/CACNA1A db key
affected individuals (familial hemiplegic migraine) and in individuals with no related-gene gene-symbol ghr-page GTR C1832894
family history of the condition (sporadic hemiplegic migraine). Like other forms PRRT2 https://ghr.nlm.nih.gov/gene/PRRT2 db key
of migraine, familial hemiplegic migraine affects females more often than related-gene gene-symbol ghr-page GTR C1864987
males. html:p SCN1A https://ghr.nlm.nih.gov/gene/SCN1A db key
GTR C1865322
db key
GeneReviews fhm
db key
ICD-10-CM G43.409
db key
MeSH D020325
db key
html:p OMIM 141500
db key
OMIM 602481
db key
OMIM 609634
db key
Orphanet 569
db key
related-gene-list SNOMED CT 95656000
Familial hemophagocytic lymphohistiocytosis https://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in html:p autosomal recessive PRF1 https://ghr.nlm.nih.gov/gene/PRF1 familial erythrophagocytic lymphohistiocytosis db key 2014-11 2017-12-29
50,000 individuals worldwide. related-gene gene-symbol ghr-page familial hemophagocytic histiocytosis GTR C0272199
STX11 https://ghr.nlm.nih.gov/gene/STX11 familial hemophagocytic lymphocytosis db key
related-gene gene-symbol ghr-page familial hemophagocytic reticulosis GTR C1837174
STXBP2 https://ghr.nlm.nih.gov/gene/STXBP2 FEL db key
related-gene gene-symbol ghr-page FHL GTR C1863727
html:p UNC13D https://ghr.nlm.nih.gov/gene/UNC13D FHLH db key
hemophagocytic syndrome GTR C1863728
HPLH db key
primary hemophagocytic hymphohistiocytosis GTR C2751293
db key
html:p GTR CN034020
db key
GeneReviews hlh
db key
ICD-10-CM D76.1
db key
MeSH D051359
db key
html:p OMIM 267700
db key
OMIM 603552
db key
OMIM 603553
db key
OMIM 608898
db key
OMIM 613101
db key
Orphanet 540
db key
related-gene-list SNOMED CT 398250003
Familial hyperaldosteronism https://ghr.nlm.nih.gov/condition/familial-hyperaldosteronism The prevalence of familial hyperaldosteronism is unknown. Familial html:p autosomal dominant CYP11B1 https://ghr.nlm.nih.gov/gene/CYP11B1 familial primary aldosteronism db key 2014-04 2017-12-29
hyperaldosteronism type II appears to be the most common variety. All types of related-gene gene-symbol ghr-page FH GTR C1260386
familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of CYP11B2 https://ghr.nlm.nih.gov/gene/CYP11B2 hereditary aldosteronism db key
hyperaldosteronism. related-gene gene-symbol ghr-page hyperaldosteronism, familial GTR C3150933
KCNJ5 https://ghr.nlm.nih.gov/gene/KCNJ5 db key
ICD-10-CM E26.02
db key
MeSH D006929
html:p db key
OMIM 103900
db key
OMIM 605635
db key
OMIM 613677
db key
Orphanet 403
db key
Orphanet 404
db key
Orphanet 251274
db key
html:p SNOMED CT 703231005
related-gene-list
Familial hypertrophic cardiomyopathy https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people html:p autosomal dominant ACTC1 https://ghr.nlm.nih.gov/gene/ACTC1 familial asymmetric septal hypertrophy db key 2015-08 2017-12-29
worldwide. It is the most common genetic heart disease in the United States. related-gene gene-symbol ghr-page HCM GTR C1860752
ACTN2 https://ghr.nlm.nih.gov/gene/ACTN2 hereditary ventricular hypertrophy db key
related-gene gene-symbol ghr-page heritable hypertrophic cardiomyopathy GTR C1861862
CALR3 https://ghr.nlm.nih.gov/gene/CALR3 idiopathic hypertrophic subaortic stenosis db key
related-gene gene-symbol ghr-page GTR C1861864
CSRP3 https://ghr.nlm.nih.gov/gene/CSRP3 db key
related-gene gene-symbol ghr-page GTR C3495498
JPH2 https://ghr.nlm.nih.gov/gene/JPH2 db key
related-gene gene-symbol ghr-page GeneReviews hyper-card
MYBPC3 https://ghr.nlm.nih.gov/gene/MYBPC3 db key
related-gene gene-symbol ghr-page MeSH D024741
html:p MYH7 https://ghr.nlm.nih.gov/gene/MYH7 db key
related-gene gene-symbol ghr-page OMIM 115195
MYL2 https://ghr.nlm.nih.gov/gene/MYL2 db key
related-gene gene-symbol ghr-page OMIM 115196
MYL3 https://ghr.nlm.nih.gov/gene/MYL3 db key
html:p related-gene gene-symbol ghr-page OMIM 115197
MYOZ2 https://ghr.nlm.nih.gov/gene/MYOZ2 db key
related-gene gene-symbol ghr-page OMIM 192600
NEXN https://ghr.nlm.nih.gov/gene/NEXN db key
related-gene gene-symbol ghr-page OMIM 600858
PLN https://ghr.nlm.nih.gov/gene/PLN db key
related-gene gene-symbol ghr-page OMIM 608751
PRKAG2 https://ghr.nlm.nih.gov/gene/PRKAG2 db key
related-gene gene-symbol ghr-page OMIM 608758
TCAP https://ghr.nlm.nih.gov/gene/TCAP db key
related-gene gene-symbol ghr-page OMIM 612098
TNNI3 https://ghr.nlm.nih.gov/gene/TNNI3 db key
related-gene gene-symbol ghr-page OMIM 612124
TNNT2 https://ghr.nlm.nih.gov/gene/TNNT2 db key
related-gene gene-symbol ghr-page OMIM 613243
TPM1 https://ghr.nlm.nih.gov/gene/TPM1 db key
related-gene gene-symbol ghr-page OMIM 613251
TTN https://ghr.nlm.nih.gov/gene/TTN db key
related-gene gene-symbol ghr-page OMIM 613255
VCL https://ghr.nlm.nih.gov/gene/VCL db key
OMIM 613690
db key
OMIM 613765
db key
OMIM 613838
db key
OMIM 613873
db key
OMIM 613874
db key
OMIM 613875
db key
OMIM 613876
db key
OMIM 614676
db key
Orphanet 99739
db key
SNOMED CT 360465008
db key
related-gene-list SNOMED CT 83978005
Familial hypobetalipoproteinemia https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals. html:p autosomal codominant ANGPTL3 https://ghr.nlm.nih.gov/gene/ANGPTL3 FHBL db key 2012-08 2017-12-29
related-gene gene-symbol ghr-page hypobetalipoproteinemia GTR C1857970
APOB https://ghr.nlm.nih.gov/gene/APOB db key
related-gene gene-symbol ghr-page GTR C1862596
PCSK9 https://ghr.nlm.nih.gov/gene/PCSK9 db key
ICD-10-CM E78.6
db key
MeSH D006995
db key
OMIM 107730
db key
OMIM 605019
db key
Orphanet 426
db key
SNOMED CT 190786004
db key
SNOMED CT 238093009
db key
SNOMED CT 238094003
db key
related-gene-list SNOMED CT 60193003
Familial idiopathic basal ganglia calcification https://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcificatio FIBGC is thought to be a rare disorder; about 60 affected families have html:p autosomal dominant PDGFRB https://ghr.nlm.nih.gov/gene/PDGFRB bilateral striopallidodentate calcinosis db key 2013-02 2017-12-29
n been described in the medical literature. However, because brain imaging tests related-gene gene-symbol ghr-page cerebrovascular ferrocalcinosis GTR C0393590
are needed to recognize the calcium deposits, this condition is believed to be SLC20A2 https://ghr.nlm.nih.gov/gene/SLC20A2 FIBGC db key
underdiagnosed. striopallidodentate calcinosis GTR C1847731
db key
html:p GTR C3554321
db key
GeneReviews bgc
db key
MeSH D001480
db key
OMIM 213600
db key
OMIM 606656
db key
html:p OMIM 615007
db key
Orphanet 1980
db key
related-gene-list SNOMED CT 110997000
Familial isolated hyperparathyroidism https://ghr.nlm.nih.gov/condition/familial-isolated-hyperparathyroidism The prevalence of familial isolated hyperparathyroidism is unknown. html:p autosomal dominant CASR https://ghr.nlm.nih.gov/gene/CASR FIHP db key 2012-08 2017-12-29
related-gene gene-symbol ghr-page hyperparathyroidism 1 GTR C1840402
CDC73 https://ghr.nlm.nih.gov/gene/CDC73 db key
related-gene gene-symbol ghr-page GeneReviews hrpt2
MEN1 https://ghr.nlm.nih.gov/gene/MEN1 db key
ICD-10-CM E21.0
db key
MeSH D049950
db key
html:p OMIM 145000
db key
Orphanet 99879
db key
SNOMED CT 237653008
html:p
related-gene-list
Familial isolated pituitary adenoma https://ghr.nlm.nih.gov/condition/familial-isolated-pituitary-adenoma Pituitary adenomas, including sporadic tumors, are relatively common; they html:p autosomal dominant AIP https://ghr.nlm.nih.gov/gene/AIP FIPA db key 2013-08 2017-12-29
are identified in an estimated 1 in 1,000 people. FIPA, though, is quite rare, GTR CN169290
accounting for approximately 2 percent of pituitary adenomas. More than 200 db key
families with FIPA have been described in the medical literature. GeneReviews ipa
html:p db key
MeSH D010911
db key
OMIM 102200
db key
Orphanet 314777
db key
SNOMED CT 702375004
html:p
html:p
html:p
html:p
related-gene-list
Familial lipoprotein lipase deficiency https://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency This condition affects about 1 per million people worldwide. It is much html:p autosomal recessive LPL https://ghr.nlm.nih.gov/gene/LPL Burger-Grutz syndrome db key 2015-02 2017-12-29
more common in certain areas of the province of Quebec, Canada. endogenous hypertriglyceridaemia GTR C0023817
familial fat-induced hypertriglyceridemia db key
html:p familial hyperchylomicronemia GeneReviews lpl
familial LPL deficiency db key
hyperlipoproteinemia type I ICD-10-CM E78.3
hyperlipoproteinemia type Ia db key
lipase D deficiency MeSH D008072
LIPD deficiency db key
lipoprotein lipase deficiency, familial OMIM 238600
html:p db key
Orphanet 444490
db key
SNOMED CT 238086005
db key
SNOMED CT 267435002
html:p db key
SNOMED CT 275598004
db key
SNOMED CT 403827000
html:p
html:p
related-gene-list
Familial male-limited precocious puberty https://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty Familial male-limited precocious puberty is a rare disorder; its prevalence html:p autosomal dominant LHCGR https://ghr.nlm.nih.gov/gene/LHCGR familial gonadotrophin-independent sexual precocity db key 2012-08 2017-12-29
is unknown. GIPP GTR C0342549
gonadotrophin-independent precocious puberty db key
precocious pseudopuberty ICD-10-CM E29.0
pubertas praecox db key
testotoxicosis MeSH D011629
db key
OMIM 176410
db key
Orphanet 3000
db key
related-gene-list SNOMED CT 237818003
Familial Mediterranean fever https://ghr.nlm.nih.gov/condition/familial-mediterranean-fever Familial Mediterranean fever primarily affects populations originating in html:p autosomal dominant MEFV https://ghr.nlm.nih.gov/gene/MEFV benign paroxysmal peritonitis db key 2014-06 2017-12-29
the Mediterranean region, particularly people of Armenian, Arab, Turkish, or memo related-gene gene-symbol ghr-page familial paroxysmal polyserositis GTR C0031069
Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these autosomal recessive SAA1 https://ghr.nlm.nih.gov/gene/SAA1 FMF db key
populations. It is less common in other populations. MEF GeneReviews fmf
recurrent polyserositis db key
Reimann periodic disease ICD-10-CM E85.0
Siegal-Cattan-Mamou disease db key
Wolff periodic disease MeSH D010505
db key
html:p OMIM 249100
db key
Orphanet 342
db key
SNOMED CT 12579009
related-gene-list
Familial osteochondritis dissecans https://ghr.nlm.nih.gov/condition/familial-osteochondritis-dissecans Familial osteochondritis dissecans is a rare condition, although the html:p autosomal dominant ACAN https://ghr.nlm.nih.gov/gene/ACAN fOCD db key 2012-10 2017-12-29
prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is OCD GTR C0029421
estimated to occur in the knee in 15 to 29 per 100,000 individuals. OD db key
osteochondritis dissecans, , and early-onset osteoarthritis ICD-10-CM M93.2
db key
ICD-10-CM M93.20
db key
ICD-10-CM M93.21
db key
ICD-10-CM M93.22
db key
ICD-10-CM M93.23
db key
ICD-10-CM M93.24
html:p db key
ICD-10-CM M93.25
db key
ICD-10-CM M93.26
db key
ICD-10-CM M93.27
db key
ICD-10-CM M93.28
db key
ICD-10-CM M93.29
db key
ICD-10-CM M93.211
db key
ICD-10-CM M93.212
db key
ICD-10-CM M93.219
db key
ICD-10-CM M93.221
db key
ICD-10-CM M93.222
db key
ICD-10-CM M93.229
db key
ICD-10-CM M93.231
db key
ICD-10-CM M93.232
db key
ICD-10-CM M93.239
db key
ICD-10-CM M93.241
db key
ICD-10-CM M93.242
db key
ICD-10-CM M93.249
db key
ICD-10-CM M93.251
db key
ICD-10-CM M93.252
db key
ICD-10-CM M93.259
db key
ICD-10-CM M93.261
db key
ICD-10-CM M93.262
db key
ICD-10-CM M93.269
db key
ICD-10-CM M93.271
db key
ICD-10-CM M93.272
db key
ICD-10-CM M93.279
db key
MeSH D010008
db key
OMIM 165800
db key
Orphanet 251262
db key
related-gene-list SNOMED CT 82562007
Familial paroxysmal kinesigenic dyskinesia https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in html:p autosomal dominant PRRT2 https://ghr.nlm.nih.gov/gene/PRRT2 dystonia 10 db key 2014-01 2017-12-29
150,000 individuals. For unknown reasons, this condition affects more males than episodic kinesigenic dyskinesia GTR C1868682
females. familial paroxysmal dystonia db key
paroxysmal kinesigenic choreoathetosis GeneReviews pknd
paroxysmal kinesigenic dyskinesia db key
html:p MeSH D020820
db key
OMIM 128200
db key
Orphanet 31709
db key
Orphanet 98809
db key
SNOMED CT 609221008
html:p
html:p
related-gene-list
Familial paroxysmal nonkinesigenic dyskinesia https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia Familial paroxysmal nonkinesigenic dyskinesia is a very rare disorder. Its html:p autosomal dominant PNKD https://ghr.nlm.nih.gov/gene/PNKD familial paroxysmal choreoathetosis db key 2017-08 2017-12-29
prevalence is estimated to be 1 in 5 million people. Mount-Reback syndrome GTR C1869117
nonkinesigenic choreoathetosis db key
paroxysmal dystonic choreoathetosis GTR C1970149
paroxysmal nonkinesigenic dyskinesia db key
html:p PDC GeneReviews pnknd
PNKD db key
MeSH D020820
db key
OMIM 118800
db key
OMIM 611147
db key
SNOMED CT 609218006
html:p
related-gene-list
Familial partial lipodystrophy https://ghr.nlm.nih.gov/condition/familial-partial-lipodystrophy Familial partial lipodystrophy is a rare disease, affecting an estimated 1 html:p autosomal dominant ADRA2A https://ghr.nlm.nih.gov/gene/ADRA2A Dunnigan-Kobberling syndrome db key 2016-09 2017-12-29
in 1 million people overall. Type 2 is the most common form, with more than 500 memo related-gene gene-symbol ghr-page FPL GTR C0271694
cases reported in the medical literature. Women tend to be diagnosed with autosomal recessive AKT2 https://ghr.nlm.nih.gov/gene/AKT2 Kobberling-Dunnigan syndrome db key
familial partial lipodystrophy more often than men, probably because a loss of related-gene gene-symbol ghr-page lipodystrophy, familial partial GTR C1720859
fat from the hips and limbs is more easily recognized in women, and CIDEC https://ghr.nlm.nih.gov/gene/CIDEC db key
complications such as diabetes and hypertriglyceridemia occur more commonly in related-gene gene-symbol ghr-page GTR C1720860
women. LIPE https://ghr.nlm.nih.gov/gene/LIPE db key
related-gene gene-symbol ghr-page GTR C1720861
LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
related-gene gene-symbol ghr-page GTR C3151268
PLIN1 https://ghr.nlm.nih.gov/gene/PLIN1 db key
html:p related-gene gene-symbol ghr-page GTR C3808940
PPARG https://ghr.nlm.nih.gov/gene/PPARG db key
GTR C4014869
db key
MeSH D052496
db key
OMIM 151660
db key
OMIM 604367
html:p db key
OMIM 608600
db key
OMIM 613877
db key
OMIM 615238
db key
OMIM 615980
html:p db key
Orphanet 98306
db key
SNOMED CT 49292002
related-gene-list
Familial pityriasis rubra pilaris https://ghr.nlm.nih.gov/condition/familial-pityriasis-rubra-pilaris Familial pityriasis rubra pilaris is a rare condition. Its incidence is html:p autosomal dominant CARD14 https://ghr.nlm.nih.gov/gene/CARD14 familial PRP db key 2013-03 2017-12-29
unknown, although the familial form appears to be the least common type of GTR C0032027
pityriasis rubra pilaris. db key
ICD-10-CM L44.0
db key
MeSH D010916
db key
OMIM 173200
db key
Orphanet 2897
html:p db key
SNOMED CT 238622008
related-gene-list
Familial porencephaly https://ghr.nlm.nih.gov/condition/familial-porencephaly Familial porencephaly is a rare condition, although the exact prevalence is html:p ad autosomal dominant COL4A1 synonym db-key db key 2011-09 2017-12-29
unknown. At least eight affected families have been described in the scientific synonym GTR C1867983
literature. synonym db-key db key
GeneReviews col4a1-dis
db-key db key
ICD-10-CM Q04.6
db-key db key
MeSH D065708
html:p db-key db key
OMIM 175780
db-key db key
Orphanet 99810
db-key db key
SNOMED CT 38353004
related-gene-list
Familial restrictive cardiomyopathy https://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy The prevalence of familial restrictive cardiomyopathy is unknown. Although html:p autosomal dominant ACTC1 https://ghr.nlm.nih.gov/gene/ACTC1 cardiomyopathy, restrictive db key 2011-01 2017-12-29
cardiomyopathy is a relatively common condition, restrictive cardiomyopathy, in related-gene gene-symbol ghr-page RCM GTR C0340429
which relaxation of the heart muscle is impaired, is the least common type. Some MYH7 https://ghr.nlm.nih.gov/gene/MYH7 db key
other forms of cardiomyopathy involve a weak or enlarged heart muscle with related-gene gene-symbol ghr-page GTR C1861861
impaired contraction. In the United States and in Europe, restrictive TNNI3 https://ghr.nlm.nih.gov/gene/TNNI3 db key
cardiomyopathy accounts for less than five percent of all cardiomyopathies. The html:p related-gene gene-symbol ghr-page GTR C1865071
proportion of restrictive cardiomyopathy that runs in families is not known. TNNT2 https://ghr.nlm.nih.gov/gene/TNNT2 db key
GTR C2676271
db key
html:p ICD-10-CM I42.5
db key
MeSH D002313
db key
OMIM 115210
db key
OMIM 609578
db key
OMIM 612422
db key
html:p Orphanet 217635
db key
SNOMED CT 233878008
related-gene-list
Familial thoracic aortic aneurysm and dissection https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissecti Familial TAAD is believed to account for at least 20 percent of thoracic html:p autosomal dominant ACTA2 https://ghr.nlm.nih.gov/gene/ACTA2 annuloaortic ectasia db key 2015-01 2017-12-29
on aortic aneurysms and dissections. In the remainder of cases, the abnormalities related-gene gene-symbol ghr-page congenital aneurysm of ascending aorta GTR C0345050
are thought to be caused by factors that are not inherited, such as damage to FBN1 https://ghr.nlm.nih.gov/gene/FBN1 FAA db key
the walls of the aorta from aging, tobacco use, injury, or disease.While aortic related-gene gene-symbol ghr-page familial aortic aneurysm GTR C1846837
aneurysms are common worldwide, it is difficult to determine their exact MYH11 https://ghr.nlm.nih.gov/gene/MYH11 familial aortic dissection db key
prevalence because they usually cause no symptoms unless they rupture. Ruptured related-gene gene-symbol ghr-page familial TAAD GTR C1851504
aortic aneurysms and dissections are estimated to cause almost 30,000 deaths in html:p MYLK https://ghr.nlm.nih.gov/gene/MYLK familial thoracic aortic aneurysm db key
the United States each year. related-gene gene-symbol ghr-page FTAAD GTR C2673186
PRKG1 https://ghr.nlm.nih.gov/gene/PRKG1 TAA db key
related-gene gene-symbol ghr-page TAAD GTR CN118826
SMAD3 https://ghr.nlm.nih.gov/gene/SMAD3 thoracic aortic aneurysm db key
related-gene gene-symbol ghr-page GeneReviews taa
TGFBR1 https://ghr.nlm.nih.gov/gene/TGFBR1 db key
html:p related-gene gene-symbol ghr-page ICD-10-CM I71.0
TGFBR2 https://ghr.nlm.nih.gov/gene/TGFBR2 db key
ICD-10-CM I71.00
db key
ICD-10-CM I71.01
html:p db key
ICD-10-CM I71.1
db key
ICD-10-CM I71.2
db key
ICD-10-CM I71.03
db key
html:p ICD-10-CM I71.5
db key
ICD-10-CM I71.6
db key
MeSH D017545
db key
OMIM 132900
db key
OMIM 607086
db key
OMIM 607087
db key
OMIM 611788
db key
OMIM 613780
db key
OMIM 615436
db key
Orphanet 229
db key
related-gene-list SNOMED CT 433068007
Fanconi anemia https://ghr.nlm.nih.gov/condition/fanconi-anemia Fanconi anemia occurs in 1 in 160,000 individuals worldwide. This condition html:p autosomal recessive BRCA2 https://ghr.nlm.nih.gov/gene/BRCA2 FA db key 2012-01 2017-12-29
is more common among people of Ashkenazi Jewish descent, the Roma population of memo related-gene gene-symbol ghr-page Fanconi hypoplastic anemia GTR C0015625
Spain, and black South Africans. X-linked recessive BRIP1 https://ghr.nlm.nih.gov/gene/BRIP1 Fanconi pancytopenia db key
html:p related-gene gene-symbol ghr-page Fanconi panmyelopathy GTR C1835817
FANCA https://ghr.nlm.nih.gov/gene/FANCA db key
related-gene gene-symbol ghr-page GTR C1836860
FANCB https://ghr.nlm.nih.gov/gene/FANCB db key
related-gene gene-symbol ghr-page GTR C1836861
FANCC https://ghr.nlm.nih.gov/gene/FANCC db key
related-gene gene-symbol ghr-page GTR C1838457
FANCD2 https://ghr.nlm.nih.gov/gene/FANCD2 db key
related-gene gene-symbol ghr-page GTR C1845292
FANCE https://ghr.nlm.nih.gov/gene/FANCE db key
related-gene gene-symbol ghr-page GTR C3150653
html:p FANCF https://ghr.nlm.nih.gov/gene/FANCF db key
related-gene gene-symbol ghr-page GTR C3160738
FANCG https://ghr.nlm.nih.gov/gene/FANCG db key
related-gene gene-symbol ghr-page GTR C3160739
FANCI https://ghr.nlm.nih.gov/gene/FANCI db key
related-gene gene-symbol ghr-page GTR C3468041
FANCL https://ghr.nlm.nih.gov/gene/FANCL db key
related-gene gene-symbol ghr-page GTR C3469521
FANCM https://ghr.nlm.nih.gov/gene/FANCM db key
related-gene gene-symbol ghr-page GTR C3469526
PALB2 https://ghr.nlm.nih.gov/gene/PALB2 db key
related-gene gene-symbol ghr-page GTR C3469527
RAD51C https://ghr.nlm.nih.gov/gene/RAD51C db key
related-gene gene-symbol ghr-page GTR C3469528
html:p SLX4 https://ghr.nlm.nih.gov/gene/SLX4 db key
GTR C3469542
db key
GTR CN068499
db key
GeneReviews fa
db key
ICD-10-CM D61.09
db key
MeSH D005199
db key
OMIM 227645
db key
OMIM 227646
db key
OMIM 227650
db key
OMIM 300514
db key
OMIM 600901
db key
OMIM 603467
db key
OMIM 605724
db key
OMIM 609053
db key
OMIM 609054
db key
OMIM 609644
db key
OMIM 610832
db key
OMIM 613390
db key
OMIM 613951
db key
OMIM 614082
db key
OMIM 614083
db key
Orphanet 84
db key
related-gene-list SNOMED CT 30575002
Farber lipogranulomatosis https://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis Farber lipogranulomatosis is a rare disorder. About 80 cases have been html:p autosomal recessive ASAH1 https://ghr.nlm.nih.gov/gene/ASAH1 AC deficiency db key 2013-12 2017-12-29
reported worldwide. acid ceramidase deficiency GTR C0268255
acylsphingosine deacylase deficiency db key
ceramidase deficiency ICD-10-CM E75.29
html:p Farber disease db key
Farber-Uzman syndrome MeSH D055577
Farber's disease db key
Farber's lipogranulomatosis OMIM 228000
db key
html:p Orphanet 333
db key
html:p SNOMED CT 79935000
html:p
html:p
html:p
related-gene-list
Fatty acid hydroxylase-associated neurodegeneration https://ghr.nlm.nih.gov/condition/fatty-acid-hydroxylase-associated-neurodegener FAHN is a rare disorder; only a few dozen cases have been reported. html:p autosomal recessive FA2H https://ghr.nlm.nih.gov/gene/FA2H dysmyelinating leukodystrophy and spastic paraparesis db key 2015-08 2017-12-29
ation FAHN GTR C3668943
spastic paraplegia 35 db key
html:p GeneReviews fahn
db key
MeSH D020271
db key
OMIM 612319
db key
html:p Orphanet 385
db key
SNOMED CT 702419001
html:p
html:p
inheritance-pattern-list related-gene-list
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome https://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial FBXL4-related encephalomyopathic mtDNA depletion syndrome is a rare html:p ar autosomal recessive ghr-page FBXL4 deficiency db-key db key 2017-05 2017-12-29
-dna-depletion-syndrome condition; the exact prevalence is unknown. At least 50 affected individuals https://ghr.nlm.nih.gov/gene/FBXL4 FBXL4-related early onset mitochondrial encephalopathy GTR C3809592
have been described in the medical literature. mitochondrial DNA depletion syndrome 13, encephalomyopathic type db-key db key
MTDPS13 GeneReviews fbxl4-mtddepl
html:p db-key db key
MeSH D017237
db-key db key
OMIM 615471
html:p
html:p
related-gene-list
Feingold syndrome https://ghr.nlm.nih.gov/condition/feingold-syndrome Feingold syndrome appears to be a rare condition, although its exact html:p autosomal dominant MYCN https://ghr.nlm.nih.gov/gene/MYCN microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome db key 2009-09 2017-12-29
prevalence is unknown. microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome GTR C0796068
oculo-digito-esophagoduodental (ODED) syndrome db key
html:p GTR C3280489
db key
GTR CN199181
db key
GeneReviews feingold
db key
html:p MeSH D030342
db key
OMIM 164280
db key
OMIM 614326
db key
Orphanet 1305
db key
related-gene-list SNOMED CT 702431004
FG syndrome https://ghr.nlm.nih.gov/condition/fg-syndrome The prevalence of FG syndrome is unknown, although several hundred cases html:p X-linked recessive CASK https://ghr.nlm.nih.gov/gene/CASK FGS db key 2012-12 2017-12-29
have been reported worldwide. Researchers suspect that FG syndrome may be related-gene gene-symbol ghr-page FGS1 GTR C0220769
overdiagnosed because many of its signs and symptoms are also seen with other FLNA https://ghr.nlm.nih.gov/gene/FLNA Keller syndrome db key
disorders. html:p related-gene gene-symbol ghr-page mental retardation, large head, imperforate anus, congenital , and GTR C1845119
MED12 https://ghr.nlm.nih.gov/gene/MED12 partial agenesis of the corpus callosum db key
related-gene gene-symbol ghr-page OKS GTR C1845546
UPF3B https://ghr.nlm.nih.gov/gene/UPF3B Opitz-Kaveggia syndrome db key
GTR C1845567
db key
html:p GTR C1845902
db key
GeneReviews fg
db key
MeSH D000015
db key
MeSH D038901
db key
html:p OMIM 300321
db key
OMIM 300406
db key
OMIM 300422
db key
OMIM 300581
db key
OMIM 305450
db key
Orphanet 323
db key
related-gene-list SNOMED CT 49984004
Fibrochondrogenesis https://ghr.nlm.nih.gov/condition/fibrochondrogenesis Fibrochondrogenesis appears to be a rare disorder. About 20 affected html:p autosomal dominant COL11A1 https://ghr.nlm.nih.gov/gene/COL11A1 FBCG1 db key 2016-04 2017-12-29
individuals have been described in the medical literature. memo related-gene gene-symbol ghr-page FBCG2 GTR C0265282
autosomal recessive COL11A2 https://ghr.nlm.nih.gov/gene/COL11A2 fibrochondrogenesis-1 db key
fibrochondrogenesis-2 GTR C3281128
db key
html:p MeSH D000015
db key
MeSH D004392
db key
OMIM 228520
db key
OMIM 614524
db key
Orphanet 2021
html:p db key
SNOMED CT 17144009
related-gene-list
Fibrodysplasia ossificans progressiva https://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva Fibrodysplasia ossificans progressiva is a very rare disorder, believed to html:p autosomal dominant ACVR1 https://ghr.nlm.nih.gov/gene/ACVR1 Myositis Ossificans db key 2007-08 2017-12-29
occur in approximately 1 in 2 million people worldwide. Several hundred cases Myositis ossificans progressiva GTR C0016037
have been reported. Progressive myositis ossificans db key
progressive ossifying myositis ICD-10-CM M61.1
db key
ICD-10-CM M61.10
html:p db key
ICD-10-CM M61.11
db key
ICD-10-CM M61.12
db key
ICD-10-CM M61.13
html:p db key
ICD-10-CM M61.14
db key
ICD-10-CM M61.15
db key
html:p ICD-10-CM M61.16
db key
ICD-10-CM M61.17
db key
ICD-10-CM M61.18
db key
ICD-10-CM M61.19
db key
ICD-10-CM M61.111
db key
ICD-10-CM M61.112
db key
ICD-10-CM M61.119
db key
ICD-10-CM M61.121
db key
ICD-10-CM M61.122
db key
ICD-10-CM M61.129
db key
ICD-10-CM M61.131
db key
ICD-10-CM M61.132
db key
ICD-10-CM M61.139
db key
ICD-10-CM M61.141
db key
ICD-10-CM M61.142
db key
ICD-10-CM M61.143
db key
ICD-10-CM M61.144
db key
ICD-10-CM M61.145
db key
ICD-10-CM M61.146
db key
ICD-10-CM M61.151
db key
ICD-10-CM M61.152
db key
ICD-10-CM M61.159
db key
ICD-10-CM M61.161
db key
ICD-10-CM M61.162
db key
ICD-10-CM M61.169
db key
ICD-10-CM M61.171
db key
ICD-10-CM M61.172
db key
ICD-10-CM M61.173
db key
ICD-10-CM M61.174
db key
ICD-10-CM M61.175
db key
ICD-10-CM M61.176
db key
ICD-10-CM M61.177
db key
ICD-10-CM M61.178
db key
ICD-10-CM M61.179
db key
MeSH D009221
db key
OMIM 135100
db key
Orphanet 337
db key
related-gene-list SNOMED CT 82725007
Fibronectin glomerulopathy https://ghr.nlm.nih.gov/condition/fibronectin-glomerulopathy Fibronectin glomerulopathy is likely a rare condition, although its html:p autosomal dominant FN1 https://ghr.nlm.nih.gov/gene/FN1 familial glomerular nephritis with fibronectin deposits db key 2015-04 2017-12-29
prevalence is unknown. At least 45 cases have been described in the scientific familial lobular glomerulopathy GTR C1866075
literature. GFND db key
html:p glomerulopathy with fibronectin deposits ICD-10-CM N07.5
glomerulopathy with giant fibrillar deposits db key
MeSH D015432
db key
OMIM 137950
html:p db key
OMIM 601894
db key
Orphanet 84090
db key
html:p SNOMED CT 236535001
related-gene-list
Fish-eye disease https://ghr.nlm.nih.gov/condition/fish-eye-disease Fish-eye disease is a rare disorder. Approximately 30 cases have been html:p autosomal recessive LCAT https://ghr.nlm.nih.gov/gene/LCAT alpha-LCAT deficiency db key 2013-08 2017-12-29
reported in the medical literature. alpha-lecithin:cholesterol acyltransferase deficiency GTR C0342895
dyslipoproteinemic corneal dystrophy db key
FED MeSH D007863
LCATA deficiency db key
partial LCAT deficiency OMIM 136120
db key
Orphanet 79292
db key
related-gene-list SNOMED CT 238092004
Floating-Harbor syndrome https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome Floating-Harbor syndrome is a rare disorder; only about 50 cases have been html:p autosomal dominant SRCAP https://ghr.nlm.nih.gov/gene/SRCAP FHS db key 2012-12 2017-12-29
reported in the medical literature. FLHS GTR C0729582
Leisti-Hollander-Rimoin syndrome db key
Pelletier-Leisti syndrome GeneReviews fhs
db key
html:p MeSH D000015
db key
OMIM 136140
db key
Orphanet 2044
html:p db key
SNOMED CT 312214005
html:p
html:p
related-gene-list
Focal dermal hypoplasia https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia Focal dermal hypoplasia appears to be a rare condition, although its exact html:p X-linked dominant PORCN https://ghr.nlm.nih.gov/gene/PORCN Goltz-Gorlin syndrome db key 2014-07 2017-12-29
prevalence is unknown. Goltz syndrome GTR C0016395
db key
GeneReviews focal-dh
html:p db key
MeSH D005489
db key
OMIM 305600
db key
Orphanet 2092
db key
SNOMED CT 205573006
db key
SNOMED CT 2298005
html:p
html:p
html:p
html:p
inheritance-pattern-list
FOXG1 syndrome https://ghr.nlm.nih.gov/condition/foxg1-syndrome More than 100 cases of this rare condition have been reported. html:p ad related-gene ghr-page synonym FOXG1-related disorder db-key db key 2016-07 2017-12-29
https://ghr.nlm.nih.gov/gene/FOXG1 GTR C3150705
related-chromosome ghr-page db-key db key
https://ghr.nlm.nih.gov/chromosome/14 MeSH D020271
db-key db key
OMIM 613454
db-key db key
SNOMED CT 702450004
html:p
syndrome is classified as an .
html:p
syndrome. Because of these differences, physicians and researchers now usually
html:i syndrome to be distinct from Rett syndrome.
FOXG1
related-gene-list
FOXP2-related and disorder https://ghr.nlm.nih.gov/condition/foxp2-related--and--disorder FOXP2-related and disorder appears to be a relatively html:p ad autosomal dominant FOXP2 synonym db-key db key 2016-09 2017-12-29
uncommon cause of problems with and development. The total related-chromosome name synonym GTR C0750927
prevalence of childhood apraxia of is estimated to be 1 to 2 in 1,000 7 synonym db-key db key
people, but it is unknown how many of those cases represent FOXP2-related synonym GeneReviews foxp2-sl-dis
and disorder. synonym db-key db key
MeSH D001072
db-key db key
OMIM 602081
db-key db key
Orphanet 209908
html:p db-key db key
SNOMED CT 229703009
related-gene-list
Fragile X-associated primary ovarian insufficiency https://ghr.nlm.nih.gov/condition/fragile-x-associated-primary-ovarian-insuffici An estimated 1 in 200 females has the genetic change that leads to FXPOI, html:p X-linked dominant FMR1 https://ghr.nlm.nih.gov/gene/FMR1 FMR1-related primary ovarian insufficiency db key 2012-08 2017-12-29
ency although only about a quarter of them develop the condition. FXPOI accounts for FXPOI GTR C2749126
about 4 to 6 percent of all cases of primary ovarian insufficiency in women. premature ovarian failure 1 db key
X-linked hypergonadotropic ovarian failure GeneReviews fragilex
db key
MeSH D016649
db key
OMIM 311360
db key
SNOMED CT 237788002
html:p
related-gene-list
Fragile X-associated /ataxia syndrome https://ghr.nlm.nih.gov/condition/fragile-x-associated--ataxia-syndrome Studies show that approximately 1 in 450 males has the genetic change that html:p X-linked dominant FMR1 https://ghr.nlm.nih.gov/gene/FMR1 fragile X /ataxia syndrome db key 2012-08 2017-12-29
leads to FXTAS, although the condition occurs in only about 40 percent of them. FXTAS GTR C1839780
It is estimated that 1 in 3,000 men over age 50 is affected. Similarly, 1 in 200 db key
females has the genetic change, but only an estimated 16 percent of them GeneReviews fragilex
develop signs and symptoms of FXTAS. db key
MeSH D002526
db key
OMIM 300623
html:p db key
Orphanet 93256
db key
SNOMED CT 448045004
html:p
html:p
related-gene-list
Fragile X syndrome https://ghr.nlm.nih.gov/condition/fragile-x-syndrome Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 html:p X-linked dominant FMR1 https://ghr.nlm.nih.gov/gene/FMR1 fra(X) syndrome db key 2012-04 2017-12-29
females. FRAXA syndrome GTR C0016667
FXS db key
html:p marker X syndrome GeneReviews fragilex
Martin-Bell syndrome db key
X-linked mental retardation and macroorchidism ICD-10-CM Q99.2
db key
MeSH D005600
db key
OMIM 309550
db key
Orphanet 908
db key
html:p SNOMED CT 613003
related-gene-list
Fragile XE syndrome https://ghr.nlm.nih.gov/condition/fragile-xe-syndrome Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn html:p X-linked AFF2 https://ghr.nlm.nih.gov/gene/AFF2 FRAXE deficit db key 2014-01 2017-12-29
males. Only a small number of affected females have been described in the FRAXE disability GTR C0751157
medical literature. Because mildly affected individuals may never be diagnosed, FRAXE mental retardation syndrome db key
it is thought that the condition may be more common than reported. FRAXE syndrome MeSH D038901
mental retardation, X-linked, associated with fragile site FRAXE db key
mental retardation, X-linked, FRAXE type OMIM 309548
db key
html:p Orphanet 100973
db key
SNOMED CT 254288000
related-gene-list
Fraser syndrome https://ghr.nlm.nih.gov/condition/fraser-syndrome Fraser syndrome affects an estimated 1 in 200,000 newborns. The condition html:p autosomal recessive FRAS1 https://ghr.nlm.nih.gov/gene/FRAS1 cryptophthalmos syndactyly syndrome db key 2014-06 2017-12-29
occurs in approximately 1 in 10,000 fetuses that do not survive to birth. related-gene gene-symbol ghr-page cryptophthalmos syndrome GTR C0265233
FREM2 https://ghr.nlm.nih.gov/gene/FREM2 cryptophthalmos with other malformations db key
related-gene gene-symbol ghr-page Fraser-Francois syndrome MeSH D058497
GRIP1 https://ghr.nlm.nih.gov/gene/GRIP1 Fraser's syndrome db key
Meyer-Schwickerath syndrome OMIM 219000
Ullrich-Feichtiger syndrome db key
Orphanet 2052
html:p db key
SNOMED CT 204102004
html:p
html:p
html:p
html:p
related-gene-list
Frasier syndrome https://ghr.nlm.nih.gov/condition/frasier-syndrome Frasier syndrome is thought to be a rare condition; approximately 50 cases html:p autosomal dominant WT1 https://ghr.nlm.nih.gov/gene/WT1 FS db key 2013-03 2017-12-29
have been described in the scientific literature. html:p GTR C0950122
db key
MeSH D052159
db key
OMIM 136680
html:p db key
Orphanet 347
db key
SNOMED CT 445431000
html:p
related-gene-list
Freeman-Sheldon syndrome https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is html:p autosomal dominant MYH3 https://ghr.nlm.nih.gov/gene/MYH3 craniocarpotarsal dysplasia db key 2010-09 2017-12-29
unknown. memo craniocarpotarsal dystrophy GTR C0265224
autosomal recessive DA2A db key
distal arthrogryposis, type 2A MeSH D003394
FSS db key
html:p whistling face syndrome OMIM 193700
whistling face-windmill vane hand syndrome db key
Orphanet 2053
db key
SNOMED CT 52616002
html:p
html:p
html:p
html:p
html:p
related-gene-list
Friedreich ataxia https://ghr.nlm.nih.gov/condition/friedreich-ataxia Friedreich ataxia is estimated to affect 1 in 40,000 people in the United html:p autosomal recessive FXN https://ghr.nlm.nih.gov/gene/FXN FA db key 2016-06 2017-12-29
States. This condition is found in people with European, Middle Eastern, or FRDA GTR C1856689
North African ancestry. It is rarely identified in other ethnic groups. Friedreich spinocerebellar ataxia db key
Friedrich's ataxia GeneReviews friedreich
db key
MeSH D005621
db key
OMIM 229300
db key
html:p Orphanet 95
db key
SNOMED CT 10394003
html:p
related-gene-list
Frontometaphyseal dysplasia https://ghr.nlm.nih.gov/condition/frontometaphyseal-dysplasia Frontometaphyseal dysplasia is a rare disorder; only a few dozen cases have html:p X-linked dominant FLNA https://ghr.nlm.nih.gov/gene/FLNA FMD db key 2007-11 2017-12-29
been reported worldwide. GTR C0265293
db key
GeneReviews opd
db key
MeSH D010009
db key
OMIM 305620
html:p db key
Orphanet 1826
db key
SNOMED CT 62803002
html:p
html:p
html:p
related-gene-list
Frontonasal dysplasia https://ghr.nlm.nih.gov/condition/frontonasal-dysplasia Frontonasal dysplasia is likely a rare condition; at least 100 cases have html:p autosomal dominant ALX1 https://ghr.nlm.nih.gov/gene/ALX1 FND db key 2014-04 2017-12-29
been reported in the scientific literature. memo related-gene gene-symbol ghr-page FNM GTR C1876203
autosomal recessive ALX3 https://ghr.nlm.nih.gov/gene/ALX3 frontonasal dysplasia sequence db key
related-gene gene-symbol ghr-page frontonasal malformation GTR C3150703
ALX4 https://ghr.nlm.nih.gov/gene/ALX4 frontorhiny db key
median facial cleft syndrome GTR C3150706
db key
html:p MeSH D019465
db key
OMIM 136760
html:p db key
OMIM 613451
db key
OMIM 613456
db key
Orphanet 250
db key
SNOMED CT 254005007
db key
SNOMED CT 86610004
html:p
related-gene-list
Frontotemporal dementia with parkinsonism-17 https://ghr.nlm.nih.gov/condition/frontotemporal-dementia-with-parkinsonism-17 The worldwide prevalence of FTDP-17 is unknown. In the Netherlands, where html:p autosomal dominant MAPT https://ghr.nlm.nih.gov/gene/MAPT DDPAC db key 2017-03 2017-12-29
the disease prevalence has been studied, it is estimated to affect 1 in 1 disinhibition-dementia-parkinsonism-amytrophy complex GTR C0338451
million people. However, the disorder is likely underdiagnosed, so it may familial Pick's disease db key
actually be more common than this estimate.FTDP-17 probably accounts for a small FTDP-17 GeneReviews ftdp-17
percentage of all cases of frontotemporal dementia. Wilhelmsen-Lynch disease db key
MeSH D057180
html:p db key
OMIM 600274
db key
html:p Orphanet 282
db key
SNOMED CT 702429008
html:p
html:p
synonym-list db-key-list
Fryns syndrome https://ghr.nlm.nih.gov/condition/fryns-syndrome The worldwide incidence of Fryns syndrome is unknown. More than 50 affected html:p autosomal recessive key 2017-12-29
individuals have been reported in the medical literature. Studies suggest that db-key C0220730
Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital key
diaphragmatic hernia. db-key fryns
html:p key
db-key D000015
key
db-key D006548
key
db-key 229850
key
html:p db-key 2059
key
702432006
html:p
html:p
related-gene-list
Fuchs endothelial dystrophy https://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy The late-onset form of Fuchs endothelial dystrophy is a common condition, html:p autosomal dominant COL8A2 https://ghr.nlm.nih.gov/gene/COL8A2 Fuchs atrophy db key 2011-06 2017-12-29
affecting approximately 4 percent of people over the age of 40. The early-onset related-gene gene-symbol ghr-page Fuchs corneal dystrophy GTR C1850959
variant of Fuchs endothelial dystrophy is rare, although the exact prevalence is SLC4A11 https://ghr.nlm.nih.gov/gene/SLC4A11 Fuchs dystrophy db key
unknown.For reasons that are unclear, women are affected with Fuchs endothelial related-gene gene-symbol ghr-page Fuchs endothelial corneal dystrophy GTR C1857800
dystrophy somewhat more frequently than men. TCF4 https://ghr.nlm.nih.gov/gene/TCF4 Fuchs' endothelial dystrophy db key
html:p related-gene gene-symbol ghr-page GTR C2750447
ZEB1 https://ghr.nlm.nih.gov/gene/ZEB1 db key
GTR C2750448
db key
GTR C2750449
html:p db key
GTR C2750450
db key
GTR C2750451
db key
ICD-10-CM H18.51
db key
MeSH D005642
db key
OMIM 136800
db key
OMIM 610158
db key
OMIM 613267
db key
OMIM 613268
db key
OMIM 613269
db key
OMIM 613270
db key
OMIM 613271
db key
Orphanet 98974
db key
related-gene-list SNOMED CT 193839007
Fucosidosis https://ghr.nlm.nih.gov/condition/fucosidosis Fucosidosis is a rare condition; approximately 100 cases have been reported html:p autosomal recessive FUCA1 https://ghr.nlm.nih.gov/gene/FUCA1 Alpha-fucosidase deficiency db key 2008-12 2017-12-29
worldwide. This condition appears to be most prevalent in Italy, Cuba, and the Fucosidase deficiency GTR C0016788
southwestern United States. Fucosidase Deficiency Disease db key
ICD-10-CM E77.1
db key
MeSH D005645
db key
OMIM 230000
db key
Orphanet 349
html:p db key
SNOMED CT 399045007
db key
html:p SNOMED CT 61172008
db key
SNOMED CT 64716005
related-gene-list
Fukuyama congenital muscular dystrophy https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, html:p autosomal recessive FKTN https://ghr.nlm.nih.gov/gene/FKTN Cerebromuscular dystrophy, Fukuyama type db key 2008-08 2017-12-29
where it is the second most common form of childhood muscular dystrophy (after FCMD GTR C0410174
Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an Fukuyama CMD db key
estimated incidence of 2 to 4 per 100,000 Japanese infants. Fukuyama muscular dystrophy GeneReviews cmd-overview
html:p Fukuyama syndrome db key
Fukuyama type congenital muscular dystrophy GeneReviews fcmd
Muscular dystrophy, congenital progressive, with mental retardation db key
Muscular dystrophy, congenital, Fukuyama type MeSH D009136
Muscular dystrophy, congenital, with central nervous system involvement db key
Polymicrogyria with muscular dystrophy OMIM 253800
db key
Orphanet 272
html:p db key
SNOMED CT 111502003
html:p
related-gene-list
Fumarase deficiency https://ghr.nlm.nih.gov/condition/fumarase-deficiency Fumarase deficiency is a very rare disorder. Approximately 100 affected html:p autosomal recessive FH https://ghr.nlm.nih.gov/gene/FH fumarate hydratase deficiency db key 2017-09 2017-12-29
individuals have been reported worldwide. Several were born in an isolated fumaric aciduria GTR C0342770
religious community in the southwestern United States. db key
GeneReviews fum
db key
MeSH D008661
db key
OMIM 606812
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Orphanet 24
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SNOMED CT 124616002
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related-gene-list SNOMED CT 237983002
Fundus albipunctatus https://ghr.nlm.nih.gov/condition/fundus-albipunctatus Fundus albipunctatus is a rare disorder. Its prevalence is unknown. html:p autosomal recessive RDH5 https://ghr.nlm.nih.gov/gene/RDH5 albipunctate retinal dystrophy db key 2017-02 2017-12-29
related-gene gene-symbol ghr-page Lauber's disease GTR C0311338
RLBP1 https://ghr.nlm.nih.gov/gene/RLBP1 pigmentary retinal dystrophy db key
related-gene gene-symbol ghr-page ICD-10-CM H35.52
RPE65 https://ghr.nlm.nih.gov/gene/RPE65 db key
html:p MeSH D009755
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MeSH D015785
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OMIM 136880
html:p db key
Orphanet 227796
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SNOMED CT 68222009
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related-gene-list
Galactosemia https://ghr.nlm.nih.gov/condition/galactosemia Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. html:p autosomal recessive GALE https://ghr.nlm.nih.gov/gene/GALE classic galactosemia db key 2015-08 2017-12-29
Galactosemia type II and type III are less common; type II probably affects related-gene gene-symbol ghr-page epimerase deficiency galactosemia GTR C0016952
fewer than 1 in 100,000 newborns and type III appears to be very rare. GALK1 https://ghr.nlm.nih.gov/gene/GALK1 galactokinase deficiency disease db key
related-gene gene-symbol ghr-page galactose-1-phosphate uridyl-transferase deficiency disease GTR C0268151
GALT https://ghr.nlm.nih.gov/gene/GALT galactose epimerase deficiency db key
html:p GALE deficiency GTR C0268155
GALK deficiency db key
GALT deficiency GTR C0751161
html:p UDP-galactose-4-epimerase deficiency disease db key
UTP hexose-1-phosphate uridylyltransferase deficiency GeneReviews duarte-gal
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GeneReviews galactosemia
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GeneReviews gale-def
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ICD-10-CM E74.21
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MeSH D005693
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OMIM 230200
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html:p OMIM 230350
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OMIM 230400
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Orphanet 352
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SNOMED CT 124302001
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SNOMED CT 124354006
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SNOMED CT 190745006
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related-gene-list SNOMED CT 8849004
Galactosialidosis https://ghr.nlm.nih.gov/condition/galactosialidosis The prevalence of galactosialidosis is unknown; more than 100 cases have html:p autosomal recessive CTSA https://ghr.nlm.nih.gov/gene/CTSA deficiency of cathepsin A db key 2009-02 2017-12-29
been reported. Approximately 60 percent of people with galactosialidosis have Goldberg syndrome GTR C0268233
the juvenile/adult form. Most people with this type of the condition are of lysosomal protective protein deficiency db key
Japanese descent. html:p neuraminidase deficiency with beta-galactosidase deficiency MeSH D020140
PPCA deficiency db key
OMIM 256540
db key
Orphanet 351
db key
SNOMED CT 35691006
html:p
html:p
related-gene-list
Gastrointestinal stromal tumor https://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor Approximately 5,000 new cases of GIST are diagnosed in the United States html:p autosomal dominant BRAF https://ghr.nlm.nih.gov/gene/BRAF gastrointestinal stromal neoplasm db key 2014-09 2017-12-29
each year. However, GISTs may be more common than this estimate because small memo related-gene gene-symbol ghr-page gastrointestinal stromal sarcoma GTR C0238198
tumors may remain undiagnosed. autosomal recessive KIT https://ghr.nlm.nih.gov/gene/KIT GIST db key
related-gene gene-symbol ghr-page MeSH D046152
PDGFRA https://ghr.nlm.nih.gov/gene/PDGFRA db key
related-gene gene-symbol ghr-page OMIM 606764
SDHA https://ghr.nlm.nih.gov/gene/SDHA db key
html:p related-gene gene-symbol ghr-page Orphanet 44890
SDHB https://ghr.nlm.nih.gov/gene/SDHB db key
related-gene gene-symbol ghr-page SNOMED CT 420120006
SDHC https://ghr.nlm.nih.gov/gene/SDHC
related-gene gene-symbol ghr-page
SDHD https://ghr.nlm.nih.gov/gene/SDHD
html:p
related-gene-list
Gaucher disease https://ghr.nlm.nih.gov/condition/gaucher-disease Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general html:p autosomal recessive GBA https://ghr.nlm.nih.gov/gene/GBA cerebroside lipidosis syndrome db key 2014-09 2017-12-29
population. Type 1 is the most common form of the disorder; it occurs more Gaucher splenomegaly GTR C0017205
frequently in people of Ashkenazi (eastern and central European) Jewish heritage Gaucher syndrome db key
than in those with other backgrounds. This form of the condition affects 1 in Gaucher's disease GTR C0268250
500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher html:p Gauchers disease db key
disease are uncommon and do not occur more frequently in people of Ashkenazi GD GTR C0268251
Jewish descent. glucocerebrosidase deficiency db key
glucocerebrosidosis GTR C1856476
glucosyl cerebroside lipidosis db key
glucosylceramidase deficiency GTR C1856491
glucosylceramide beta-glucosidase deficiency db key
glucosylceramide lipidosis GTR C1856492
html:p kerasin histiocytosis db key
kerasin lipoidosis GTR C1961835
kerasin thesaurismosis db key
lipoid histiocytosis (kerasin type) GeneReviews gaucher
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ICD-10-CM E75.22
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html:p MeSH D005776
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OMIM 230800
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OMIM 230900
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OMIM 231000
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html:p OMIM 231005
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Orphanet 355
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Orphanet 2072
db key
SNOMED CT 12246008
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SNOMED CT 190794006
db key
SNOMED CT 5963005
db key
related-gene-list SNOMED CT 62201009
Geleophysic dysplasia https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More html:p autosomal recessive ADAMTSL2 https://ghr.nlm.nih.gov/gene/ADAMTSL2 geleophysic dwarfism db key 2009-12 2017-12-29
than 30 affected individuals have been reported. related-gene gene-symbol ghr-page GTR C3280054
FBN1 https://ghr.nlm.nih.gov/gene/FBN1 db key
html:p GeneReviews geleophys-dysp
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MeSH D009139
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MeSH D017880
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html:p OMIM 231050
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OMIM 614185
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Orphanet 2623
db key
SNOMED CT 28557005
html:p
html:p
related-gene-list
Generalized arterial calcification of infancy https://ghr.nlm.nih.gov/condition/generalized-arterial-calcification-of-infancy The prevalence of GACI has been estimated to be about 1 in 391,000. At html:p autosomal recessive ABCC6 https://ghr.nlm.nih.gov/gene/ABCC6 arteriopathia calcificans infantum db key 2015-01 2017-12-29
least 200 affected individuals have been described in the medical literature. related-gene gene-symbol ghr-page diffuse arterial calcifying elastopathy of infancy GTR C3276161
ENPP1 https://ghr.nlm.nih.gov/gene/ENPP1 GACI db key
idiopathic infantile arterial calcification GeneReviews gaci
idiopathic obliterative arteriopathy db key
IIAC MeSH D061205
infantile calcifying arteriopathy db key
medial coronary sclerosis of infancy OMIM 208000
occlusive infantile arteriopathy db key
OMIM 614473
db key
Orphanet 51608
html:p db key
SNOMED CT 68926002
html:p
html:p
related-gene-list
Generalized pustular psoriasis https://ghr.nlm.nih.gov/condition/generalized-pustular-psoriasis GPP is the rarest form of psoriasis. Although the worldwide prevalence of html:p autosomal dominant AP1S3 https://ghr.nlm.nih.gov/gene/AP1S3 acute generalised pustular psoriasis db key 2017-05 2017-12-29
GPP is unknown, the condition is estimated to affect 2 per million people in memo related-gene gene-symbol ghr-page deficiency of the interleukin-36 receptor antagonist GTR C0343055
Europe. It also occurs in approximately 0.6 per million people each year in autosomal recessive CARD14 https://ghr.nlm.nih.gov/gene/CARD14 DITRA db key
Japan. related-gene gene-symbol ghr-page generalized pustular psoriasis of von Zumbusch GTR C4015235
IL36RN https://ghr.nlm.nih.gov/gene/IL36RN GPP db key
von Zumbusch psoriasis ICD-10-CM L40.1
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MeSH D011565
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OMIM 602723
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OMIM 614204
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html:p OMIM 616106
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Orphanet 247353
db key
related-gene-list SNOMED CT 238612002
Genetic with febrile plus https://ghr.nlm.nih.gov/condition/genetic--with-febrile--plus GEFS+ is a rare condition. Its prevalence is unknown. html:p autosomal dominant GABRD https://ghr.nlm.nih.gov/gene/GABRD GEFS+ db key 2017-07 2017-12-29
related-gene gene-symbol ghr-page generalized with febrile plus GTR C1858672
GABRG2 https://ghr.nlm.nih.gov/gene/GABRG2 db key
related-gene gene-symbol ghr-page GTR C1858673
SCN1A https://ghr.nlm.nih.gov/gene/SCN1A db key
related-gene gene-symbol ghr-page GTR C1858674
SCN1B https://ghr.nlm.nih.gov/gene/SCN1B db key
related-gene gene-symbol ghr-page GTR C2751777
SCN2A https://ghr.nlm.nih.gov/gene/SCN2A db key
related-gene gene-symbol ghr-page GTR C3150401
SCN9A https://ghr.nlm.nih.gov/gene/SCN9A db key
related-gene gene-symbol ghr-page GTR C3502809
html:p STX1B https://ghr.nlm.nih.gov/gene/STX1B db key
GTR C4015395
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GTR CN120574
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html:p GeneReviews gefs
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MeSH D003294
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MeSH D004827
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OMIM 604233
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OMIM 604403
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OMIM 611277
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html:p OMIM 613060
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OMIM 613863
html:p db key
OMIM 616172
db key
Orphanet 33069
db key
Orphanet 36387
db key
related-gene-list SNOMED CT 699688008
Genitopatellar syndrome https://ghr.nlm.nih.gov/condition/genitopatellar-syndrome Genitopatellar syndrome is estimated to occur in fewer than 1 per million html:p autosomal dominant KAT6B https://ghr.nlm.nih.gov/gene/KAT6B absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and db key 2013-02 2017-12-29
people. At least 18 cases have been reported in the medical literature. mental retardation GTR C1853566
GPS db key
html:p GeneReviews kat6b-dis
db key
MeSH D000015
html:p db key
MeSH D008607
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MeSH D014564
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OMIM 606170
html:p db key
Orphanet 85201
db key
SNOMED CT 702367005
html:p
related-gene-list
Ghosal hematodiaphyseal dysplasia https://ghr.nlm.nih.gov/condition/ghosal-hematodiaphyseal-dysplasia Ghosal hematodiaphyseal dysplasia is a rare disorder; only a few cases have html:p autosomal recessive TBXAS1 https://ghr.nlm.nih.gov/gene/TBXAS1 diaphyseal dysplasia associated with anemia db key 2014-03 2017-12-29
been reported in the medical literature. Most affected individuals have been GHDD GTR C1856465
from the Middle East and India. Ghosal hemato-diaphyseal dysplasia db key
html:p Ghosal syndrome MeSH D010009
Ghosal-type hemato-diaphyseal dysplasia db key
OMIM 231095
db key
html:p Orphanet 1802
db key
SNOMED CT 389214003
related-gene-list
Giant axonal neuropathy https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy Giant axonal neuropathy is a very rare disorder; only about 50 affected html:p autosomal recessive GAN https://ghr.nlm.nih.gov/gene/GAN GAN db key 2016-09 2017-12-29
families have been described in the medical literature. The condition is thought giant axonal disease GTR C1850386
to be under-diagnosed because its early symptoms resemble those of other, more db key
common disorders affecting the peripheral nervous system, such as GeneReviews gan
Charcot-Marie-Tooth disease. db key
MeSH D056768
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html:p OMIM 256850
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Orphanet 643
db key
SNOMED CT 128207002
html:p
html:p
related-gene-list
Giant congenital melanocytic nevus https://ghr.nlm.nih.gov/condition/giant-congenital-melanocytic-nevus Giant congenital melanocytic nevus occurs in approximately 1 in 20,000 html:p not inherited BRAF https://ghr.nlm.nih.gov/gene/BRAF congenital giant pigmented nevus of skin db key 2014-12 2017-12-29
newborns worldwide. related-gene gene-symbol ghr-page congenital melanocytic nevus syndrome GTR C1842036
NRAS https://ghr.nlm.nih.gov/gene/NRAS giant congenital melanocytic nevi db key
giant congenital pigmented nevus ICD-10-CM D22
giant pigmented hairy nevus db key
GMN MeSH D009508
GPHN db key
OMIM 137550
db key
Orphanet 626
db key
SNOMED CT 254815002
html:p
html:p
html:p
html:p
html:p
related-gene-list
Gilbert syndrome https://ghr.nlm.nih.gov/condition/gilbert-syndrome Gilbert syndrome is a common condition that is estimated to affect 3 to 7 html:p autosomal dominant UGT1A1 https://ghr.nlm.nih.gov/gene/UGT1A1 constitutional liver dysfunction db key 2012-02 2017-12-29
percent of Americans. memo familial nonhemolytic jaundice GTR C0017551
autosomal recessive Gilbert disease db key
Gilbert-Lereboullet syndrome ICD-10-CM E80.4
Gilbert's disease db key
Gilbert's syndrome MeSH D005878
hyperbilirubinemia 1 db key
Meulengracht syndrome OMIM 143500
unconjugated benign bilirubinemia db key
Orphanet 357
db key
html:p SNOMED CT 27503000
related-gene-list
Gillespie syndrome https://ghr.nlm.nih.gov/condition/gillespie-syndrome The prevalence of Gillespie syndrome is unknown. Only a few dozen affected html:p autosomal dominant PAX6 https://ghr.nlm.nih.gov/gene/PAX6 aniridia-cerebellar ataxia- disability db key 2014-07 2017-12-29
individuals have been described in the medical literature. It has been estimated memo aniridia-cerebellar ataxia-mental deficiency GTR C0431401
that Gillespie syndrome accounts for about 2 percent of cases of aniridia. autosomal recessive aniridia, cerebellar ataxia, and mental retardation db key
html:p partial aniridia-cerebellar ataxia-oligophrenia MeSH D015783
db key
OMIM 206700
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Orphanet 1065
db key
SNOMED CT 253176002
html:p
html:p
related-gene-list
Gitelman syndrome https://ghr.nlm.nih.gov/condition/gitelman-syndrome Gitelman syndrome affects an estimated 1 in 40,000 people worldwide. html:p autosomal recessive CLCNKB https://ghr.nlm.nih.gov/gene/CLCNKB familial hypokalemia-hypomagnesemia db key 2011-02 2017-12-29
related-gene gene-symbol ghr-page Gitelman's syndrome GTR C0268450
html:p SLC12A3 https://ghr.nlm.nih.gov/gene/SLC12A3 GS db key
hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria MeSH D053579
tubular hypomagnesemia-hypokalemia with hypocalcuria db key
OMIM 263800
db key
Orphanet 358
db key
SNOMED CT 707756004
html:p
related-gene-list
Glanzmann thrombasthenia https://ghr.nlm.nih.gov/condition/glanzmann-thrombasthenia Glanzmann thrombasthenia is estimated to affect 1 in one million html:p autosomal recessive ITGA2B https://ghr.nlm.nih.gov/gene/ITGA2B deficiency of glycoprotein complex IIb-IIIa db key 2015-09 2017-12-29
individuals worldwide, but may be more common in certain groups, including those related-gene gene-symbol ghr-page deficiency of platelet fibrinogen receptor GTR C0040015
of Romani ethnicity, particularly people within the French Manouche community. ITGB3 https://ghr.nlm.nih.gov/gene/ITGB3 Glanzmann disease db key
Glanzmann-Naegeli disorder ICD-10-CM D69.1
glycoprotein IIb/IIIa defect db key
hereditary hemorrhagic thrombasthenia MeSH D013915
hereditary thrombasthenia db key
platelet fibrinogen receptor deficiency OMIM 273800
db key
Orphanet 849
html:p db key
SNOMED CT 32942005
html:p
related-gene-list
Globozoospermia https://ghr.nlm.nih.gov/condition/globozoospermia Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 html:p autosomal recessive DPY19L2 https://ghr.nlm.nih.gov/gene/DPY19L2 acrosome malformation of spermatozoa db key 2015-04 2017-12-29
men. It is most common in North Africa, where it accounts for approximately 1 round-headed spermatozoa GTR C0403825
in 100 cases of male infertility. spermatogenic failure 9 db key
html:p MeSH D000072660
db key
OMIM 613958
db key
Orphanet 171709
db key
related-gene-list SNOMED CT 236818008
Glucose-6-phosphate dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency An estimated 400 million people worldwide have glucose-6-phosphate html:p X-linked recessive G6PD https://ghr.nlm.nih.gov/gene/G6PD deficiency of glucose-6-phosphate dehydrogenase db key 2017-05 2017-12-29
dehydrogenase deficiency. This condition occurs most frequently in certain parts G6PD deficiency GTR C0017758
of Africa, Asia, the Mediterranean, and the Middle East. It affects about 1 in G6PDD db key
10 African American males in the United States. glucose 6 phosphate dehydrogenase deficiency ICD-10-CM D55.0
related-gene-list
Glucose-galactose malabsorption https://ghr.nlm.nih.gov/condition/glucose-galactose-malabsorption Glucose-galactose malabsorption is a rare disorder; only a few hundred html:p autosomal recessive SLC5A1 https://ghr.nlm.nih.gov/gene/SLC5A1 carbohydrate intolerance db key 2007-07 2017-12-29
cases have been identified worldwide. However, as many as 10 percent of the complex carbohydrate intolerance GTR C0268186
population may have a somewhat reduced capacity for glucose absorption without GGM db key
associated health problems. This condition may be a milder variation of html:p monosaccharide malabsorption MeSH D008286
glucose-galactose malabsorption. db key
OMIM 606824
db key
Orphanet 35710
db key
SNOMED CT 190749000
db key
html:p SNOMED CT 27943000
html:p
related-gene-list
Glucose phosphate isomerase deficiency https://ghr.nlm.nih.gov/condition/glucose-phosphate-isomerase-deficiency GPI deficiency is a rare cause of hemolytic anemia; its prevalence is html:p autosomal recessive GPI https://ghr.nlm.nih.gov/gene/GPI glucose-6-phosphate isomerase deficiency db key 2013-12 2017-12-29
unknown. About 50 cases have been described in the medical literature. glucosephosphate isomerase deficiency GTR C3150730
GPI deficiency db key
nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency GTR CN072763
db key
MeSH D000745
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OMIM 613470
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Orphanet 712
html:p db key
SNOMED CT 124669001
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SNOMED CT 234404008
db key
html:p SNOMED CT 52413004
related-gene-list
GLUT1 deficiency syndrome https://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have html:p autosomal dominant SLC2A1 https://ghr.nlm.nih.gov/gene/SLC2A1 De Vivo disease db key 2014-03 2017-12-29
been reported worldwide since the disorder was first identified in 1991. In memo encephalopathy due to GLUT1 deficiency GTR C1847501
Australia, the prevalence of the disorder has been estimated at 1 in 90,000 autosomal recessive G1D db key
people. However, researchers suggest that the disorder may be underdiagnosed, glucose transport defect, blood-brain barrier GeneReviews glut1
because many neurological disorders can cause similar symptoms. glucose transporter protein syndrome db key
glucose transporter type 1 deficiency syndrome MeSH D020739
Glut1 deficiency db key
GLUT1 DS OMIM 606777
GTPS db key
Orphanet 71277
db key
SNOMED CT 445252005
html:p
html:p
related-gene-list
Glutamate formiminotransferase deficiency https://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency Glutamate formiminotransferase deficiency is a rare disorder; approximately html:p autosomal recessive FTCD https://ghr.nlm.nih.gov/gene/FTCD Arakawa syndrome 1 db key 2009-08 2017-12-29
20 affected individuals have been identified. Of these, about one-quarter have FIGLU-uria GTR C0268609
the severe form of the disorder. Everyone reported with the severe form has been formiminoglutamic aciduria db key
of Japanese origin. The remaining individuals, who come from a variety of html:p formiminotransferase deficiency MeSH D008661
ethnic backgrounds, are affected by the mild form of the condition. db key
OMIM 229100
db key
html:p Orphanet 51208
db key
SNOMED CT 59761008
html:p
related-gene-list
Glutaric acidemia type I https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i Glutaric acidemia type I occurs in approximately 1 of every 30,000 to html:p autosomal recessive GCDH https://ghr.nlm.nih.gov/gene/GCDH GA I db key 2007-03 2017-12-29
40,000 individuals. It is much more common in the Amish community and in the Glutaric acidemia I GTR C0268595
Ojibwa population of Canada, where up to 1 in 300 newborns may be affected. Glutaric acidemia type 1 db key
Glutaric aciduria I MeSH D000592
Glutaryl-CoA dehydrogenase deficiency db key
OMIM 231670
db key
html:p Orphanet 25
db key
SNOMED CT 76175005
html:p
related-gene-list
Glutaric acidemia type II https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii Glutaric acidemia type II is a very rare disorder; its precise incidence is html:p autosomal recessive ETFA https://ghr.nlm.nih.gov/gene/ETFA electron transfer flavoprotein deficiency db key 2014-02 2017-12-29
unknown. It has been reported in several different ethnic groups. related-gene gene-symbol ghr-page EMA GTR C0268596
ETFB https://ghr.nlm.nih.gov/gene/ETFB ETFA deficiency db key
related-gene gene-symbol ghr-page ETFB deficiency ICD-10-CM E71.313
html:p ETFDH https://ghr.nlm.nih.gov/gene/ETFDH ETFDH deficiency db key
ethylmalonic-adipicaciduria MeSH D054069
GA II db key
glutaric acidemia, type 2 OMIM 231680
glutaric aciduria, type 2 db key
MAD Orphanet 26791
html:p MADD db key
multiple acyl-CoA dehydrogenase deficiency SNOMED CT 22886006
multiple FAD dehydrogenase deficiency
html:p
related-gene-list
Glutathione synthetase deficiency https://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency Glutathione synthetase deficiency is very rare. This disorder has been html:p autosomal recessive GSS https://ghr.nlm.nih.gov/gene/GSS 5-oxoprolinemia db key 2015-03 2017-12-29
described in more than 70 people worldwide. 5-oxoprolinuria GTR C0398746
deficiency of glutathione synthase db key
deficiency of glutathione synthetase GTR C1856399
pyroglutamic acidemia db key
pyroglutamic aciduria MeSH D008661
html:p db key
OMIM 231900
db key
OMIM 266130
db key
Orphanet 32
html:p db key
SNOMED CT 124706000
db key
SNOMED CT 234589002
html:p db key
SNOMED CT 39112005
related-gene-list
Glycine encephalopathy https://ghr.nlm.nih.gov/condition/glycine-encephalopathy The worldwide incidence of glycine encephalopathy is unknown. Its html:p autosomal recessive AMT https://ghr.nlm.nih.gov/gene/AMT Hyperglycinemia, Nonketotic db key 2007-04 2017-12-29
frequency has been studied in only a few regions: this condition affects about 1 related-gene gene-symbol ghr-page NKH GTR C0751748
in 55,000 newborns in Finland and about 1 in 63,000 newborns in British GLDC https://ghr.nlm.nih.gov/gene/GLDC non-ketotic hyperglycinemia db key
Columbia, Canada. Nonketotic Hyperglycinemia GeneReviews nkh
db key
ICD-10-CM E72.51
db key
MeSH D020158
html:p db key
OMIM 605899
db key
Orphanet 407
db key
SNOMED CT 237939006
db key
SNOMED CT 303092001
html:p db key
SNOMED CT 51097006
db key
SNOMED CT 63329001
db key
SNOMED CT 67845009
html:p
related-gene-list
Glycogen storage disease type 0 https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-0 The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle html:p autosomal recessive GYS1 https://ghr.nlm.nih.gov/gene/GYS1 glycogen storage disease 0 db key 2014-01 2017-12-29
type and fewer than 30 people with the liver type have been described in the related-gene gene-symbol ghr-page glycogen synthase deficiency GTR C1855861
scientific literature. Because some people with muscle GSD 0 die from sudden GYS2 https://ghr.nlm.nih.gov/gene/GYS2 glycogen synthetase deficiency db key
cardiac arrest early in life before a diagnosis is made and many with liver GSD GSD 0 GTR C1969054
0 have mild signs and symptoms, it is thought that GSD 0 may be underdiagnosed. GSD type 0 db key
html:p hypoglycemia with deficiency of glycogen synthetase ICD-10-CM E74.09
db key
MeSH D006008
db key
OMIM 240600
db key
OMIM 611556
db key
Orphanet 2089
db key
html:p Orphanet 137625
db key
SNOMED CT 237964009
related-gene-list
Glycogen storage disease type I https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i The overall incidence of GSDI is 1 in 100,000 individuals. GSDIa is more html:p autosomal recessive G6PC https://ghr.nlm.nih.gov/gene/G6PC glucose-6-phosphate deficiency db key 2015-07 2017-12-29
common than GSDIb, accounting for 80 percent of all GSDI cases. related-gene gene-symbol ghr-page glucose-6-phosphate transport defect GTR C0017920
SLC37A4 https://ghr.nlm.nih.gov/gene/SLC37A4 GSD I db key
GSD type I GTR C0268146
hepatorenal form of glycogen storage disease db key
html:p hepatorenal glycogenosis GTR CN069618
von Gierke disease db key
von Gierke's disease GeneReviews gsd1
db key
ICD-10-CM E74.01
db key
MeSH D005953
db key
OMIM 232200
db key
html:p OMIM 232220
db key
Orphanet 364
db key
SNOMED CT 124437004
db key
SNOMED CT 30102006
db key
SNOMED CT 444707001
html:p db key
SNOMED CT 7265005
html:p
related-gene-list
Glycogen storage disease type III https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii The incidence of GSDIII in the United States is 1 in 100,000 individuals. html:p autosomal recessive AGL https://ghr.nlm.nih.gov/gene/AGL AGL deficiency db key 2014-12 2017-12-29
This condition is seen more frequently in people of North African Jewish Cori disease GTR C0017922
ancestry; in this population, 1 in 5,400 individuals are estimated to be Cori's disease db key
affected.GSDIIIa is the most common form of GSDIII, accounting for about 85 debrancher deficiency GeneReviews gsd3
percent of all cases. GSDIIIb accounts for about 15 percent of cases. GSD types html:p Forbes disease db key
IIIc and IIId are very rare, and their signs and symptoms are poorly defined. glycogen debrancher deficiency ICD-10-CM E74.03
Only a small number of affected individuals have been suspected to have GSD GSD III db key
types IIIc and IIId. GSD3 MeSH D006010
limit dextrinosis db key
OMIM 232400
html:p db key
Orphanet 366
db key
SNOMED CT 66937008
html:p
related-gene-list
Glycogen storage disease type IV https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals html:p autosomal recessive GBE1 https://ghr.nlm.nih.gov/gene/GBE1 amylopectinosis db key 2013-02 2017-12-29
worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen Andersen disease GTR C0017923
storage disease. Andersen glycogenosis db key
Andersen's disease GeneReviews gsd4
brancher deficiency db key
html:p branching enzyme deficiency ICD-10-CM E74.09
glycogen branching enzyme deficiency db key
glycogen storage disease IV MeSH D006011
glycogen storage disease type 4 db key
glycogenosis 4 OMIM 232500
glycogenosis, type IV db key
GSD IV Orphanet 367
GSD type IV db key
html:p GSD4 SNOMED CT 11179002
type IV glycogenosis db key
SNOMED CT 124267007
html:p
html:p
html:p
related-gene-list
Glycogen storage disease type IX https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-ix GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. html:p autosomal recessive PHKA1 https://ghr.nlm.nih.gov/gene/PHKA1 GSD IX db key 2015-08 2017-12-29
The forms of the disease that affect muscles or both muscles and liver are much memo related-gene gene-symbol ghr-page GSDIX GTR C0017927
less common, although the prevalence is unknown. X-linked recessive PHKA2 https://ghr.nlm.nih.gov/gene/PHKA2 PhK deficiency db key
related-gene gene-symbol ghr-page phosphorylase b kinase deficiency GTR C0543514
PHKB https://ghr.nlm.nih.gov/gene/PHKB phosphorylase kinase deficiency db key
html:p related-gene gene-symbol ghr-page GTR C1845151
PHKG2 https://ghr.nlm.nih.gov/gene/PHKG2 db key
GTR C2751643
db key
GeneReviews gsd9
db key
MeSH D006008
db key
OMIM 261750
db key
OMIM 300559
db key
OMIM 306000
db key
html:p OMIM 613027
db key
Orphanet 370
db key
Orphanet 715
db key
Orphanet 264580
db key
html:p Orphanet 79240
db key
SNOMED CT 40191005
related-gene-list
Glycogen storage disease type V https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v GSDV is a rare disorder; however, its prevalence is unknown. In the html:p autosomal recessive PYGM https://ghr.nlm.nih.gov/gene/PYGM glycogen storage disease type 5 db key 2014-06 2017-12-29
Dallas-Fort Worth area of Texas, where the prevalence of GSDV has been studied, glycogenosis 5 GTR C0017924
the condition is estimated to affect 1 in 100,000 individuals. GSD type V db key
GSD V GeneReviews gsd5
html:p McArdle disease db key
McArdle syndrome ICD-10-CM E74.04
McArdle type glycogen storage disease db key
McArdle's disease MeSH D006012
muscle glycogen phosphorylase deficiency db key
muscle phosphorylase deficiency OMIM 232600
myophosphorylase deficiency db key
html:p PYGM deficiency Orphanet 368
db key
SNOMED CT 55912009
html:p
related-gene-list
Glycogen storage disease type VI https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi The exact prevalence of GSDVI is unknown. At least 11 cases have been html:p autosomal recessive PYGL https://ghr.nlm.nih.gov/gene/PYGL GSD type VI db key 2010-09 2017-12-29
reported in the medical literature, although this condition is likely to be GSD VI GTR C0017925
underdiagnosed because it can be difficult to detect in children with mild GSD6 db key
symptoms or adults with no symptoms. GSDVI is more common in the Old Older hepatic glycogen phosphorylase deficiency GeneReviews gsd6
Mennonite population, with an estimated incidence of 1 in 1,000 individuals. html:p Hers disease db key
liver phosphorylase deficiency syndrome ICD-10-CM E74.09
db key
MeSH D006013
html:p db key
Orphanet 369
db key
related-gene-list SNOMED CT 29291001
Glycogen storage disease type VII https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vii GSDVII is thought to be a rare condition; more than 100 cases have been html:p autosomal recessive PFKM https://ghr.nlm.nih.gov/gene/PFKM glycogenosis 7 db key 2014-04 2017-12-29
described in the scientific literature. GSD VII GTR C0017926
GSD7 db key
html:p muscle phosphofructokinase deficiency MeSH D006014
PFKM deficiency db key
html:p phosphofructokinase deficiency OMIM 232800
Tarui disease db key
Orphanet 371
db key
SNOMED CT 89597008
html:p
html:p
html:p
related-gene-list
Glycoprotein VI deficiency https://ghr.nlm.nih.gov/condition/glycoprotein-vi-deficiency The prevalence of glycoprotein VI deficiency is unknown. At least 15 cases html:p autosomal recessive GP6 https://ghr.nlm.nih.gov/gene/GP6 BDPLT11 db key 2017-04 2017-12-29
have been described in the scientific literature. bleeding diathesis due to a collagen receptor defect MeSH D025861
bleeding disorder, platelet-type, 11 db key
GP VI deficiency OMIM 614201
db key
Orphanet 73271
db key
SNOMED CT 234470000
related-gene-list
GM1 gangliosidosis https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis GM1 gangliosidosis is estimated to occur in 1 in 100,000 to 200,000 html:p autosomal recessive GLB1 https://ghr.nlm.nih.gov/gene/GLB1 beta-galactosidase-1 (GLB1) deficiency db key 2013-08 2017-12-29
newborns. Type I is reported more frequently than the other forms of this GTR C0085131
condition. Most individuals with type III are of Japanese descent. db key
GTR C0268271
db key
GTR C0268272
db key
html:p GTR C0268273
db key
ICD-10-CM E75.19
db key
MeSH D016537
db key
OMIM 230500
db key
OMIM 230600
db key
OMIM 230650
db key
Orphanet 354
db key
SNOMED CT 124465002
db key
SNOMED CT 18756002
html:p db key
SNOMED CT 238025006
db key
SNOMED CT 238026007
db key
SNOMED CT 238027003
html:p
related-gene-list
GM2-gangliosidosis, AB variant https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant The AB variant is extremely rare; only a few cases have been reported html:p autosomal recessive GM2A https://ghr.nlm.nih.gov/gene/GM2A AB variant db key 2008-09 2017-12-29
worldwide. Activator Deficiency/GM2 Gangliosidosis GTR C0268275
html:p Activator-deficient Tay-Sachs disease db key
GM2 Activator Deficiency Disease MeSH D049290
GM2 gangliosidosis, type AB db key
Hexosaminidase activator deficiency OMIM 272750
Tay-Sachs Disease, AB Variant db key
Orphanet 845
db key
SNOMED CT 71253000
related-gene-list
GM3 synthase deficiency https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency GM3 synthase deficiency appears to be a rare condition. About 50 cases have html:p autosomal recessive ST3GAL5 https://ghr.nlm.nih.gov/gene/ST3GAL5 Amish infantile syndrome db key 2014-07 2017-12-29
been reported, mostly from Old Order Amish communities. syndrome, infantile-onset symptomatic GTR C1836824
ganglioside GM3 synthase deficiency db key
infantile-onset symptomatic syndrome MeSH D004827
db key
OMIM 609056
db key
Orphanet 171714
db key
Orphanet 370933
db key
html:p SNOMED CT 722762005
html:p
related-gene-list
Gnathodiaphyseal dysplasia https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia The prevalence of gnathodiaphyseal dysplasia is unknown, but it is thought html:p autosomal dominant ANO5 https://ghr.nlm.nih.gov/gene/ANO5 GDD db key 2014-12 2017-12-29
to be a rare disorder. A few affected individuals and families have been gnathodiaphyseal sclerosis GTR C1833736
described in the medical literature. Levin syndrome 2 db key
osteogenesis imperfecta with unusual skeletal lesions MeSH D010009
osteogenesis imperfecta, Levin type db key
html:p OMIM 166260
db key
Orphanet 53697
db key
html:p SNOMED CT 715568002
html:p
related-gene-list
Gordon Holmes syndrome https://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome Gordon Holmes syndrome is a rare condition. Its prevalence is unknown. html:p autosomal recessive PNPLA6 https://ghr.nlm.nih.gov/gene/PNPLA6 cerebellar ataxia and hypogonadotropic hypogonadism db key 2017-07 2017-12-29
related-gene gene-symbol ghr-page deficiency of luteinizing hormone-releasing hormone with ataxia GTR C1859305
RNF216 https://ghr.nlm.nih.gov/gene/RNF216 LHRH deficiency and ataxia db key
MeSH D002526
db key
MeSH D007006
db key
OMIM 212840
html:p
related-gene-list
Gorlin syndrome https://ghr.nlm.nih.gov/condition/gorlin-syndrome Gorlin syndrome affects an estimated 1 in 31,000 people. While more than 1 html:p autosomal dominant PTCH1 https://ghr.nlm.nih.gov/gene/PTCH1 basal cell nevus syndrome db key 2012-10 2017-12-29
million new cases of basal cell carcinoma are diagnosed each year in the United BCNS GTR C0004779
States, fewer than 1 percent of these skin cancers are related to Gorlin Gorlin-Goltz syndrome db key
syndrome. html:p NBCCS GeneReviews bcns
nevoid basal cell carcinoma syndrome db key
MeSH D001478
db key
OMIM 109400
db key
Orphanet 377
db key
SNOMED CT 69408002
html:p
html:p
html:p
related-gene-list
GRACILE syndrome https://ghr.nlm.nih.gov/condition/gracile-syndrome GRACILE syndrome is found almost exclusively in Finland, where it is html:p autosomal recessive BCS1L https://ghr.nlm.nih.gov/gene/BCS1L Fellman syndrome db key 2014-03 2017-12-29
estimated to affect 1 in 47,000 infants. At least 32 affected infants have been Finnish lactic acidosis with hepatic hemosiderosis GTR C1864002
described in the medical literature. Finnish lethal neonatal metabolic syndrome db key
html:p , amino aciduria, cholestasis, iron overload, lactic acidosis, MeSH D008661
and early death db key
OMIM 603358
db key
Orphanet 53693
db key
SNOMED CT 703388005
html:p
related-gene-list
Grange syndrome https://ghr.nlm.nih.gov/condition/grange-syndrome Grange syndrome has been reported to affect at least six individuals from html:p autosomal recessive YY1AP1 https://ghr.nlm.nih.gov/gene/YY1AP1 arterial occlusive disease, progressive, with hypertension, s, bone db key 2017-07 2017-12-29
three families. fragility, and brachysyndactyly GTR C1865267
Grange occlusive arterial syndrome db key
GRNG MeSH D001157
db key
MeSH D006330
db key
html:p OMIM 602531
db key
Orphanet 79094
db key
related-gene-list SNOMED CT 717824007
Granulomatosis with polyangiitis https://ghr.nlm.nih.gov/condition/granulomatosis-with-polyangiitis GPA is a rare disorder that affects an estimated 3 in 100,000 people in the html:p pattern unknown HLA-DPB1 https://ghr.nlm.nih.gov/gene/HLA-DPB1 GPA db key 2013-07 2017-12-29
United States. Wegener granulomatosis GTR C0043092
Wegener's granulomatosis db key
ICD-10-CM M31.3
db key
ICD-10-CM M31.30
db key
ICD-10-CM M31.31
db key
html:p MeSH D014890
db key
OMIM 608710
db key
Orphanet 900
html:p db key
SNOMED CT 195353004
html:p
html:p
related-gene-list
Graves disease https://ghr.nlm.nih.gov/condition/graves-disease Graves disease affects about 1 in 200 people. The disease occurs more often html:p pattern unknown CD40 https://ghr.nlm.nih.gov/gene/CD40 autoimmune hyperthyroidism db key 2013-07 2017-12-29
in women than in men, which may be related to hormonal factors. Graves disease related-gene gene-symbol ghr-page Basedow disease GTR C0018213
is the most common cause of thyroid overactivity (hyperthyroidism) in the United CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 Basedow's disease db key
States. related-gene gene-symbol ghr-page exophthalmic goiter GTR C1841794
HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 Graves' disease db key
related-gene gene-symbol ghr-page toxic diffuse goiter GTR C1863923
IL2RA https://ghr.nlm.nih.gov/gene/IL2RA db key
html:p related-gene gene-symbol ghr-page GTR C2678151
PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
related-gene gene-symbol ghr-page ICD-10-CM E05.0
SCGB3A2 https://ghr.nlm.nih.gov/gene/SCGB3A2 db key
related-gene gene-symbol ghr-page ICD-10-CM E05.00
TG https://ghr.nlm.nih.gov/gene/TG db key
related-gene gene-symbol ghr-page ICD-10-CM E05.01
TSHR https://ghr.nlm.nih.gov/gene/TSHR db key
MeSH D006111
html:p db key
OMIM 275000
db key
OMIM 300351
db key
OMIM 603388
db key
SNOMED CT 353295004
html:p
related-gene-list
Gray platelet syndrome https://ghr.nlm.nih.gov/condition/gray-platelet-syndrome Gray platelet syndrome appears to be a rare disorder. About 60 cases have html:p autosomal dominant NBEAL2 https://ghr.nlm.nih.gov/gene/NBEAL2 BDPLT4 db key 2014-09 2017-12-29
been reported worldwide. memo bleeding disorder, platelet-type, 4 GTR C0272302
autosomal recessive deficient alpha granule syndrome db key
GPS ICD-10-CM D69.1
grey platelet syndrome db key
platelet alpha-granule deficiency MeSH D055652
platelet alpha granule deficiency db key
platelet granule defect OMIM 139090
html:p db key
Orphanet 721
db key
SNOMED CT 51720005
related-gene-list
Greenberg dysplasia https://ghr.nlm.nih.gov/condition/greenberg-dysplasia Greenberg dysplasia is a very rare condition. Approximately ten cases have html:p autosomal recessive LBR https://ghr.nlm.nih.gov/gene/LBR chondrodystrophy, hydropic and prenatally lethal type db key 2012-02 2017-12-29
been reported in the scientific literature. Greenberg skeletal dysplasia GTR C1300226
html:p HEM dysplasia db key
HEM skeletal dysplasia MeSH D010009
hydrops - ectopic calcification - moth-eaten skeletal dysplasia db key
moth-eaten skeletal dysplasia OMIM 215140
db key
Orphanet 1426
db key
SNOMED CT 389261002
related-gene-list
Greig cephalopolysyndactyly syndrome https://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome This condition is very rare; its prevalence is unknown. html:p autosomal dominant GLI3 https://ghr.nlm.nih.gov/gene/GLI3 cephalopolysyndactyly syndrome db key 2016-11 2017-12-29
related-chromosome name ghr-page GCPS GTR C0265306
7 https://ghr.nlm.nih.gov/chromosome/7 db key
GeneReviews gcps
db key
MeSH D017689
db key
OMIM 175700
db key
Orphanet 380
db key
related-gene-list SNOMED CT 32985001
Griscelli syndrome https://ghr.nlm.nih.gov/condition/griscelli-syndrome Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 html:p autosomal recessive MLPH https://ghr.nlm.nih.gov/gene/MLPH GS db key 2013-09 2017-12-29
appears to be the most common of the three known types. related-gene gene-symbol ghr-page hypopigmentation immunodeficiency disease GTR C1836573
MYO5A https://ghr.nlm.nih.gov/gene/MYO5A partial albinism with immunodeficiency db key
related-gene gene-symbol ghr-page GTR C1859194
html:p RAB27A https://ghr.nlm.nih.gov/gene/RAB27A db key
GTR C1868679
db key
MeSH D017496
db key
OMIM 214450
db key
html:p OMIM 256710
db key
OMIM 607624
db key
OMIM 609227
db key
Orphanet 381
db key
SNOMED CT 37548006
html:p
related-gene-list
GRN-related frontotemporal dementia https://ghr.nlm.nih.gov/condition/grn-related-frontotemporal-dementia GRN-related frontotemporal dementia affects an estimated 3 to 15 per html:p ad autosomal dominant GRN synonym db-key db key 2010-09 2017-12-29
100,000 people aged 45 to 64. This condition accounts for 5 to 10 percent of all synonym GTR C1843792
cases of frontotemporal dementia. synonym db-key db key
synonym GeneReviews ftd-grn
synonym db-key db key
synonym MeSH D057180
html:p synonym db-key db key
synonym OMIM 607485
synonym db-key db key
synonym Orphanet 282
synonym db-key db key
html:p SNOMED CT 702426001
html:p
related-gene-list
Guanidinoacetate methyltransferase deficiency https://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency Guanidinoacetate methyltransferase deficiency is a very rare disorder. html:p autosomal recessive GAMT https://ghr.nlm.nih.gov/gene/GAMT creatine deficiency syndrome due to GAMT deficiency db key 2015-06 2017-12-29
About 80 affected individuals have been described in the medical literature. Of deficiency of guanidinoacetate methyltransferase GTR C0574080
these, approximately one-third are of Portuguese origin. GAMT deficiency db key
GeneReviews creatine
db key
MeSH D008661
db key
OMIM 612736
db key
html:p Orphanet 382
db key
SNOMED CT 124239003
related-gene-list
Guillain-Barré syndrome https://ghr.nlm.nih.gov/condition/guillain-barre-syndrome The prevalence of Guillain-Barré syndrome is estimated to be 6 to 40 cases html:p pattern unknown TNF https://ghr.nlm.nih.gov/gene/TNF acute infectious polyneuritis db key 2011-09 2017-12-29
per 1 million people. The occurrence of the different types of Guillain-Barré acute inflammatory polyneuropathy GTR C1841700
syndrome varies across regions. AIDP is the most common type in North America Fisher syndrome db key
and Europe, accounting for approximately 90 percent of cases of Guillain-Barré GBS ICD-10-CM G61.0
syndrome in those regions. AMAN and AMSAN together account for 30 to 50 percent Guillain-Barre syndrome db key
of cases in Asian countries and Latin America but only 3 to 5 percent of cases Landry-Guillain-Barre syndrome ICD-10-CM G65.0
in North America and Europe. Miller Fisher syndrome is also more common in Asian db key
countries, accounting for approximately 20 percent of cases in these countries MeSH D020275
but less than 5 percent in North America and Europe. db key
OMIM 139393
db key
Orphanet 2103
html:p db key
Orphanet 98916
db key
Orphanet 98917
db key
Orphanet 98918
db key
html:p SNOMED CT 40956001
html:p
html:p
related-gene-list
Gyrate atrophy of the choroid and retina https://ghr.nlm.nih.gov/condition/gyrate-atrophy-of-the-choroid-and-retina More than 150 individuals with gyrate atrophy have been identified; html:p autosomal recessive OAT https://ghr.nlm.nih.gov/gene/OAT gyrate atrophy db key 2009-08 2017-12-29
approximately one third are from Finland. HOGA GTR C0599035
hyperornithinemia with gyrate atrophy of choroid and retina db key
OAT deficiency ICD-10-CM H31.23
OKT deficiency db key
ornithine aminotransferase deficiency MeSH D015799
ornithine-delta-aminotransferase deficiency db key
ornithine keto acid aminotransferase deficiency OMIM 258870
Ornithinemia with gyrate atrophy db key
Orphanet 414
html:p db key
SNOMED CT 314467007
html:p
html:p
html:p
related-gene-list
Hajdu-Cheney syndrome https://ghr.nlm.nih.gov/condition/hajdu-cheney-syndrome Hajdu-Cheney syndrome is a rare disease; its prevalence is unknown. Fewer html:p autosomal dominant NOTCH2 https://ghr.nlm.nih.gov/gene/NOTCH2 acroosteolysis dominant type db key 2015-02 2017-12-29
than 100 affected individuals have been described in the medical literature. acroosteolysis with osteoporosis and changes in skull and mandible GTR C0917715
arthro-dento-osteo dysplasia db key
arthrodentoosteodysplasia MeSH D031845
Cheney syndrome db key
cranioskeletal dysplasia with acro-osteolysis OMIM 102500
html:p familial osteodysplasia db key
hereditary osteodysplasia with acro-osteolysis Orphanet 955
HJCYS db key
serpentine fibula-polycystic kidney syndrome SNOMED CT 63122002
SFPKS
html:p
html:p
html:p
html:p
html:p
related-gene-list
Hand-foot-genital syndrome https://ghr.nlm.nih.gov/condition/hand-foot-genital-syndrome Hand-foot-genital syndrome is very rare; only a few families with the html:p autosomal dominant HOXA13 https://ghr.nlm.nih.gov/gene/HOXA13 Hand-foot-uterus syndrome db key 2008-04 2017-12-29
condition have been reported worldwide. HFG syndrome GTR C1841679
HFGS db key
HFU syndrome GeneReviews hfg
db key
MeSH D005532
html:p db key
MeSH D006228
db key
MeSH D014564
db key
OMIM 140000
db key
html:p Orphanet 2438
db key
SNOMED CT 702425002
related-gene-list
Harlequin ichthyosis https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis Harlequin ichthyosis is very rare; its exact incidence is unknown. html:p autosomal recessive ABCA12 https://ghr.nlm.nih.gov/gene/ABCA12 Harlequin baby syndrome db key 2008-11 2017-12-29
HI GTR C0239849
Ichthyosis Congenita, Harlequin Fetus Type db key
GeneReviews li-ar
db key
ICD-10-CM Q80.4
db key
html:p MeSH D016113
db key
OMIM 242500
db key
Orphanet 457
db key
SNOMED CT 205548006
db key
SNOMED CT 268245001
related-gene-list
Hartnup disease https://ghr.nlm.nih.gov/condition/hartnup-disease Hartnup disease is estimated to affect 1 in 30,000 individuals. html:p autosomal recessive SLC6A19 https://ghr.nlm.nih.gov/gene/SLC6A19 Hartnup disorder db key 2016-05 2017-12-29
Hartnup's disease GTR C0018609
neutral amino acid transport defect db key
ICD-10-CM E72.02
db key
html:p MeSH D006250
db key
OMIM 234500
db key
Orphanet 2116
db key
SNOMED CT 80902009
related-gene-list
Hartsfield syndrome https://ghr.nlm.nih.gov/condition/hartsfield-syndrome Hartsfield syndrome appears to be a rare disorder. Fewer than 20 cases have html:p autosomal dominant FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 Hartsfield-Bixler-Demyer syndrome db key 2016-10 2017-12-29
been reported in the medical literature. For unknown reasons, most of the memo HHES GTR C1845146
people who have been diagnosed with this disorder are male. autosomal recessive holoprosencephaly and split hand/foot syndrome db key
html:p holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate GeneReviews hartsfield
holoprosencephaly, hypertelorism, and ectrodactyly syndrome db key
MeSH D006228
db key
MeSH D016142
db key
OMIM 615465
db key
Orphanet 2117
html:p
html:p
related-gene-list
Hashimoto thyroiditis https://ghr.nlm.nih.gov/condition/hashimoto-thyroiditis Hashimoto thyroiditis affects 1 to 2 percent of people in the United html:p pattern unknown CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 autoimmune chronic lymphocytic thyroiditis db key 2013-07 2017-12-29
States. It occurs more often in women than in men, which may be related to related-gene gene-symbol ghr-page autoimmune thyroiditis GTR C0677607
hormonal factors. The condition is the most common cause of thyroid HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 chronic lymphocytic thyroiditides db key
underactivity (hypothyroidism) in the United States. related-gene gene-symbol ghr-page chronic lymphocytic thyroiditis ICD-10-CM E06.3
TG https://ghr.nlm.nih.gov/gene/TG Hashimoto disease db key
Hashimoto struma MeSH D050031
Hashimoto syndrome db key
html:p Hashimoto's disease OMIM 140300
lymphocytic thyroiditis db key
Orphanet 855
db key
SNOMED CT 21983002
html:p
html:p
related-gene-list
Head and neck squamous cell carcinoma https://ghr.nlm.nih.gov/condition/head-and-neck-squamous-cell-carcinoma HNSCC is the seventh most common cancer worldwide. Approximately 600,000 html:p not inherited CDKN2A https://ghr.nlm.nih.gov/gene/CDKN2A HNSCC db key 2015-01 2017-12-29
new cases are diagnosed each year, including about 50,000 in the United States. related-gene gene-symbol ghr-page SCCHN GTR C1168401
HNSCC occurs most often in men in their 50s or 60s, although the incidence among FAT1 https://ghr.nlm.nih.gov/gene/FAT1 squamous cell carcinoma of the head and neck db key
younger individuals is increasing. related-gene gene-symbol ghr-page MeSH D002294
HRAS https://ghr.nlm.nih.gov/gene/HRAS db key
html:p related-gene gene-symbol ghr-page MeSH D006258
NOTCH1 https://ghr.nlm.nih.gov/gene/NOTCH1 db key
related-gene gene-symbol ghr-page OMIM 275355
PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA db key
related-gene gene-symbol ghr-page Orphanet 67037
PTEN https://ghr.nlm.nih.gov/gene/PTEN db key
related-gene gene-symbol ghr-page SNOMED CT 405822008
TP53 https://ghr.nlm.nih.gov/gene/TP53 db key
SNOMED CT 408649007
html:p db key
SNOMED CT 419842002
related-gene-list
Hemophilia https://ghr.nlm.nih.gov/condition/hemophilia The two major forms of hemophilia occur much more commonly in males than in html:p X-linked recessive F8 https://ghr.nlm.nih.gov/gene/F8 Hemophilia, familial db key 2012-08 2017-12-29
females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 related-gene gene-symbol ghr-page Hemophilia, hereditary GTR C0008533
in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in F9 https://ghr.nlm.nih.gov/gene/F9 db key
approximately 1 in 20,000 newborn males worldwide. GTR C0019069
db key
GTR C0684275
db key
GTR CN043453
html:p db key
GeneReviews hemo-a
db key
GeneReviews hemo-b
db key
ICD-10-CM D66
db key
ICD-10-CM D67
db key
ICD-10-CM D68.311
db key
ICD-10-CM M36.2
db key
ICD-10-CM Z14.01
db key
ICD-10-CM Z14.02
db key
MeSH D002836
db key
MeSH D006467
db key
OMIM 306700
db key
OMIM 306900
db key
Orphanet 448
db key
SNOMED CT 41788008
db key
related-gene-list SNOMED CT 90935002
Hennekam syndrome https://ghr.nlm.nih.gov/condition/hennekam-syndrome At least 50 cases of Hennekam syndrome have been reported worldwide. html:p autosomal recessive CCBE1 https://ghr.nlm.nih.gov/gene/CCBE1 generalized lymphatic dysplasia db key 2014-07 2017-12-29
related-gene gene-symbol ghr-page Hennekam lymphangiectasia-lymphedema syndrome GTR C0340834
FAT4 https://ghr.nlm.nih.gov/gene/FAT4 intestinal lymphagiectasia-lymphedema-mental retardation syndrome db key
lymphedema-lymphangiectasia- disability syndrome GTR C4014939
html:p db key
MeSH D008201
db key
OMIM 235510
html:p db key
OMIM 616006
db key
Orphanet 2136
db key
SNOMED CT 234146006
html:p
html:p
html:p
html:p
html:p
related-gene-list
Hepatic lipase deficiency https://ghr.nlm.nih.gov/condition/hepatic-lipase-deficiency Hepatic lipase deficiency is likely a rare disorder; only a few affected html:p autosomal recessive LIPC https://ghr.nlm.nih.gov/gene/LIPC HL deficiency db key 2015-12 2017-12-29
families have been reported in the scientific literature. hyperlipidemia due to hepatic triglyceride lipase deficiency GTR C3151466
LIPC deficiency db key
MeSH D008052
db key
OMIM 614025
db key
Orphanet 140905
html:p db key
SNOMED CT 720940008
related-gene-list
Hepatic veno-occlusive disease with immunodeficiency https://ghr.nlm.nih.gov/condition/hepatic-veno-occlusive-disease-with-immunodefi VODI appears to be a rare disorder; approximately 20 affected families have html:p autosomal recessive SP110 https://ghr.nlm.nih.gov/gene/SP110 familial veno-occlusive disease with immunodeficiency db key 2009-01 2017-12-29
ciency been reported worldwide. Most people diagnosed with the condition have been of hepatic venoocclusive disease with immunodeficiency GTR C1856128
Lebanese ancestry. However, the disorder has also been identified in several veno-occlusive disease and immunodeficiency syndrome db key
individuals with other backgrounds in the United States and Italy. html:p VODI GeneReviews vodi
db key
ICD-10-CM K76.5
db key
html:p MeSH D006504
db key
OMIM 235550
db key
Orphanet 79124
db key
html:p SNOMED CT 65617004
related-gene-list
Hereditary angioedema https://ghr.nlm.nih.gov/condition/hereditary-angioedema Hereditary angioedema is estimated to affect 1 in 50,000 people. Type I is html:p autosomal dominant F12 https://ghr.nlm.nih.gov/gene/F12 C1 esterase inhibitor deficiency db key 2009-04 2017-12-29
the most common, accounting for 85 percent of cases. Type II occurs in 15 related-gene gene-symbol ghr-page C1 inhibitor deficiency GTR C0019243
percent of cases, and type III is very rare. SERPING1 https://ghr.nlm.nih.gov/gene/SERPING1 HAE db key
HANE GTR C1857728
hereditary angioneurotic edema db key
GTR C1862892
db key
MeSH D054179
html:p db key
OMIM 106100
db key
OMIM 610618
db key
html:p Orphanet 91378
db key
SNOMED CT 82966003
related-gene-list
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome https://ghr.nlm.nih.gov/condition/hereditary-angiopathy-with-nephropathy-aneurys HANAC syndrome is a rare condition, although the exact prevalence is html:p ad autosomal dominant COL4A1 synonym db-key db key 2011-09 2017-12-29
ms-and-muscle-cramps-syndrome unknown. At least six affected families have been described in the scientific GTR C2673195
literature. synonym db-key db key
synonym GeneReviews col4a1-dis
synonym db-key db key
MeSH D002561
db-key db key
html:p OMIM 611773
db-key db key
Orphanet 73229
db-key db key
html:p SNOMED CT 702428000
html:p
html:p
html:p
related-gene-list
Hereditary antithrombin deficiency https://ghr.nlm.nih.gov/condition/hereditary-antithrombin-deficiency Hereditary antithrombin deficiency is estimated to occur in about 1 in html:p autosomal dominant SERPINC1 https://ghr.nlm.nih.gov/gene/SERPINC1 Antithrombin III Deficiency db key 2013-02 2017-12-29
2,000 to 3,000 individuals. Of people who have experienced an abnormal blood Congenital Antithrombin III Deficiency GTR C0272375
clot, about 1 in 20 to 200 have hereditary antithrombin deficiency. db key
MeSH D020152
db key
OMIM 107300
db key
Orphanet 82
html:p db key
SNOMED CT 36351005
db key
html:p SNOMED CT 439699000
related-gene-list
Hereditary cerebral amyloid angiopathy https://ghr.nlm.nih.gov/condition/hereditary-cerebral-amyloid-angiopathy The prevalence of hereditary cerebral amyloid angiopathy is unknown. The html:p autosomal dominant APP https://ghr.nlm.nih.gov/gene/APP autosomal dominant cerebrovascular amyloidosis db key 2012-05 2017-12-29
Dutch type is the most common, with over 200 affected individuals reported in related-gene gene-symbol ghr-page CAA GTR C1527338
the scientific literature. CST3 https://ghr.nlm.nih.gov/gene/CST3 cerebral amyloid angiopathy, familial db key
related-gene gene-symbol ghr-page cerebral amyloid angiopathy, genetic GTR C1861735
ITM2B https://ghr.nlm.nih.gov/gene/ITM2B HCHWA db key
GTR C1867773
db key
html:p GTR C2751536
db key
ICD-10-CM I68.0
db key
html:p MeSH D028243
db key
OMIM 105150
db key
OMIM 117300
html:p db key
OMIM 176500
db key
OMIM 605714
html:p db key
Orphanet 85458
db key
SNOMED CT 230724001
html:p db key
SNOMED CT 237867001
db key
SNOMED CT 45639009
db key
SNOMED CT 56453003
html:p db key
SNOMED CT 703220002
related-gene-list
Hereditary diffuse gastric cancer https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer Gastric cancer is the fourth most common form of cancer worldwide, html:p autosomal dominant CDH1 https://ghr.nlm.nih.gov/gene/CDH1 E-cadherin-associated hereditary gastric cancer db key 2016-08 2017-12-29
affecting 900,000 people per year. HDGC probably accounts for less than 1 related-gene gene-symbol ghr-page familial diffuse gastric cancer GTR C1708349
percent of these cases. CTNNA1 https://ghr.nlm.nih.gov/gene/CTNNA1 FDGC db key
HDGC GeneReviews hgc
hereditary diffuse gastric adenocarcinoma db key
MeSH D013274
db key
html:p OMIM 137215
db key
Orphanet 26106
db key
SNOMED CT 716859000
html:p
html:p
related-gene-list
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and https://ghr.nlm.nih.gov/condition/hereditary-fibrosing-poikiloderma-with-tendon- The prevalence of POIKTMP is unknown. At least 25 affected individuals have html:p autosomal dominant FAM111B https://ghr.nlm.nih.gov/gene/FAM111B hereditary sclerosing poikiloderma with tendon and pulmonary involvement db key 2017-02 2017-12-29
pulmonary fibrosis contractures-myopathy-and-pulmonary-fibrosis been described in the medical literature. POIKTMP is thought to be HFP GTR C3810325
under-diagnosed because affected individuals may have only one or a few features POIKTMP db key
of the disorder, and health care providers may not recognize these features as GeneReviews hfpoik-tmp
part of POIKTMP. html:p db key
MeSH D012873
db key
OMIM 615704
db key
Orphanet 221043
db key
SNOMED CT 402769003
html:p
html:p
html:p
related-gene-list
Hereditary folate malabsorption https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption The prevalence of hereditary folate malabsorption is unknown. Approximately html:p autosomal recessive SLC46A1 https://ghr.nlm.nih.gov/gene/SLC46A1 congenital defect of folate absorption db key 2009-05 2017-12-29
15 affected families have been reported worldwide. Researchers believe that Congenital folate malabsorption GTR C0342705
some infants with this disorder may not get diagnosed or treated, particularly Folic acid transport defect db key
in areas where advanced medical care is not available. GeneReviews folate-mal
html:p db key
MeSH D008286
db key
OMIM 229050
db key
html:p Orphanet 90045
db key
SNOMED CT 62578003
html:p
related-gene-list
Hereditary fructose intolerance https://ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance The incidence of hereditary fructose intolerance is estimated to be 1 in html:p autosomal recessive ALDOB https://ghr.nlm.nih.gov/gene/ALDOB ALDOB deficiency db key 2011-06 2017-12-29
20,000 to 30,000 individuals each year worldwide. aldolase B deficiency GTR C0016751
fructose-1-phosphate aldolase deficiency db key
fructose-1,6-biphosphate aldolase deficiency GeneReviews hfi
fructose aldolase B deficiency db key
fructose intolerance ICD-10-CM E74.12
fructosemia db key
MeSH D005633
html:p db key
OMIM 229600
db key
Orphanet 469
db key
SNOMED CT 20052008
html:p
related-gene-list
Hereditary hemochromatosis https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis Type 1 hemochromatosis is one of the most common genetic disorders in the html:p autosomal dominant HAMP https://ghr.nlm.nih.gov/gene/HAMP bronze diabetes db key 2015-05 2017-12-29
United States, affecting about 1 million people. It most often affects people memo related-gene gene-symbol ghr-page bronzed cirrhosis GTR C0392514
of Northern European descent. The other types of hemochromatosis are considered autosomal recessive HFE https://ghr.nlm.nih.gov/gene/HFE familial hemochromatosis db key
rare and have been studied in only a small number of families worldwide. related-gene gene-symbol ghr-page genetic hemochromatosis GTR C1853733
HFE2 https://ghr.nlm.nih.gov/gene/HFE2 haemochromatosis db key
related-gene gene-symbol ghr-page HC GTR C1858664
html:p PNPLA3 https://ghr.nlm.nih.gov/gene/PNPLA3 hemochromatosis db key
related-gene gene-symbol ghr-page hereditary haemochromatosis GTR C1865614
SLC40A1 https://ghr.nlm.nih.gov/gene/SLC40A1 HH db key
related-gene gene-symbol ghr-page HLAH GeneReviews hemochromatosis
TFR2 https://ghr.nlm.nih.gov/gene/TFR2 iron storage disorder db key
pigmentary cirrhosis GeneReviews jh
html:p primary hemochromatosis db key
Troisier-Hanot-Chauffard syndrome GeneReviews tfr2
Von Recklenhausen-Applebaum disease db key
ICD-10-CM E83.11
db key
ICD-10-CM E83.110
html:p db key
ICD-10-CM E83.118
db key
ICD-10-CM E83.119
db key
MeSH D006432
html:p db key
OMIM 235200
db key
OMIM 602390
db key
OMIM 604250
db key
OMIM 606069
db key
Orphanet 139491
db key
Orphanet 139498
db key
Orphanet 225123
db key
Orphanet 79230
db key
SNOMED CT 35400008
db key
SNOMED CT 399126000
db key
SNOMED CT 399144008
db key
SNOMED CT 399170009
db key
SNOMED CT 50855007
db key
related-gene-list SNOMED CT 6160004
Hereditary hemorrhagic telangiectasia https://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia The incidence of hereditary hemorrhagic telangiectasia is difficult to html:p autosomal dominant ACVRL1 https://ghr.nlm.nih.gov/gene/ACVRL1 HHT db key 2016-07 2017-12-29
determine because the severity of symptoms can vary widely and some symptoms, related-gene gene-symbol ghr-page Osler-Weber-Rendu syndrome GTR C0039445
such as frequent nosebleeds, are common in the general population. In addition, html:p ENG https://ghr.nlm.nih.gov/gene/ENG db key
arteriovenous malformations may be associated with other medical conditions. related-gene gene-symbol ghr-page GTR C1832774
Hereditary hemorrhagic telangiectasia is widely distributed, occurring in many GDF2 https://ghr.nlm.nih.gov/gene/GDF2 db key
ethnic groups around the world. It is believed to affect between 1 in 5,000 and related-gene gene-symbol ghr-page GTR C1832942
1 in 10,000 people. SMAD4 https://ghr.nlm.nih.gov/gene/SMAD4 db key
GTR C1838163
db key
html:p GTR C1857688
db key
GTR CN034812
db key
GeneReviews hht
html:p db key
ICD-10-CM I78.0
db key
MeSH D013683
db key
OMIM 175050
db key
html:p OMIM 187300
db key
OMIM 600376
db key
OMIM 601101
db key
OMIM 610655
db key
Orphanet 774
html:p db key
SNOMED CT 21877004
related-gene-list
Hereditary hyperekplexia https://ghr.nlm.nih.gov/condition/hereditary-hyperekplexia The exact prevalence of hereditary hyperekplexia is unknown. This condition html:p autosomal dominant ARHGEF9 https://ghr.nlm.nih.gov/gene/ARHGEF9 congenital stiff-man syndrome db key 2010-04 2017-12-29
has been identified in more than 70 families worldwide. memo related-gene gene-symbol ghr-page congenital stiff-person syndrome GTR C0234166
autosomal recessive GLRA1 https://ghr.nlm.nih.gov/gene/GLRA1 familial hyperekplexia db key
related-gene gene-symbol ghr-page hyperekplexia GTR C1835614
GLRB https://ghr.nlm.nih.gov/gene/GLRB startle syndrome db key
related-gene gene-symbol ghr-page STHE GTR C1845102
GPHN https://ghr.nlm.nih.gov/gene/GPHN stiff-baby syndrome db key
related-gene gene-symbol ghr-page GTR C3553288
SLC6A5 https://ghr.nlm.nih.gov/gene/SLC6A5 db key
html:p GTR C3553291
db key
GeneReviews hyperek
db key
ICD-10-CM G25.82
html:p db key
MeSH D016750
db key
OMIM 149400
db key
OMIM 300607
db key
OMIM 614618
db key
OMIM 614619
db key
Orphanet 3197
db key
related-gene-list SNOMED CT 19557000
Hereditary hypophosphatemic rickets https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets X-linked hypophosphatemic rickets is the most common form of rickets that html:p autosomal dominant CLCN5 https://ghr.nlm.nih.gov/gene/CLCN5 hypophosphatemia db key 2010-09 2017-12-29
runs in families. It affects about 1 in 20,000 newborns. Each of the other forms memo related-gene gene-symbol ghr-page VDRR GTR C0342642
of hereditary hypophosphatemic rickets has been identified in only a few autosomal recessive DMP1 https://ghr.nlm.nih.gov/gene/DMP1 vitamin D-resistant rickets db key
families. html:p memo related-gene gene-symbol ghr-page GTR C0342643
X-linked dominant ENPP1 https://ghr.nlm.nih.gov/gene/ENPP1 db key
memo related-gene gene-symbol ghr-page GTR C0342645
X-linked recessive FGF23 https://ghr.nlm.nih.gov/gene/FGF23 db key
related-gene gene-symbol ghr-page GTR C0733682
PHEX https://ghr.nlm.nih.gov/gene/PHEX db key
related-gene gene-symbol ghr-page GTR C2750078
SLC34A3 https://ghr.nlm.nih.gov/gene/SLC34A3 db key
GeneReviews rickets-xlh
db key
html:p ICD-10-CM E83.31
db key
MeSH D053098
db key
OMIM 193100
html:p db key
OMIM 241520
db key
OMIM 241530
db key
OMIM 300554
html:p db key
OMIM 307800
db key
OMIM 613312
db key
Orphanet 89937
db key
SNOMED CT 237889002
db key
SNOMED CT 237891005
db key
SNOMED CT 4996001
db key
SNOMED CT 82236004
db key
related-gene-list SNOMED CT 90505000
Hereditary leiomyomatosis and renal cell cancer https://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cance HLRCC has been reported in approximately 100 families worldwide. Its html:p autosomal dominant FH https://ghr.nlm.nih.gov/gene/FH hereditary leiomyomatosis and renal cell carcinoma db key 2008-04 2017-12-29
r prevalence is unknown. HLRCC GTR C1708350
leiomyomatosis and renal cell cancer db key
LRCC GeneReviews hlrcc
html:p MCL db key
MCUL MeSH D009386
multiple cutaneous and uterine leiomyomata db key
multiple cutaneous leiomyoma OMIM 150800
Reed's syndrome db key
Orphanet 151
db key
SNOMED CT 404043000
html:p
html:p
html:p
related-gene-list
Hereditary multiple osteochondromas https://ghr.nlm.nih.gov/condition/hereditary-multiple-osteochondromas The incidence of hereditary multiple osteochondromas is estimated to be 1 html:p autosomal dominant EXT1 https://ghr.nlm.nih.gov/gene/EXT1 Bessel-Hagen disease db key 2016-03 2017-12-29
in 50,000 individuals. This condition occurs more frequently in some isolated related-gene gene-symbol ghr-page diaphyseal aclasis GTR C0015306
populations: the incidence is approximately 1 in 1,000 in the Chamorro EXT2 https://ghr.nlm.nih.gov/gene/EXT2 exostoses, multiple hereditary db key
population of Guam and 1 in 77 in the Ojibway Indian population of Manitoba, familial exostoses GTR C1851413
Canada. hereditary multiple exostoses db key
multiple cartilaginous exostoses GeneReviews ext
multiple congenital exostosis db key
html:p multiple hereditary exostoses ICD-10-CM Q78.6
multiple osteochondromas db key
multiple osteochondromatosis MeSH D005097
db key
OMIM 133700
db key
OMIM 133701
db key
Orphanet 321
html:p db key
SNOMED CT 254044004
related-gene-list
Hereditary myopathy with early respiratory failure https://ghr.nlm.nih.gov/condition/hereditary-myopathy-with-early-respiratory-fai HMERF is a rare condition. It has been reported in several families of html:p autosomal dominant TTN https://ghr.nlm.nih.gov/gene/TTN Edstrom myopathy db key 2012-02 2017-12-29
lure Swedish and French descent, and in at least one individual from Italy. HMERF GTR C1863599
MPRM db key
html:p myopathy, proximal, with early respiratory muscle involvement GeneReviews hmerf
db key
MeSH D009135
db key
MeSH D012131
db key
html:p OMIM 603689
db key
Orphanet 178464
db key
related-gene-list SNOMED CT 702373006
Hereditary neuralgic amyotrophy https://ghr.nlm.nih.gov/condition/hereditary-neuralgic-amyotrophy Hereditary neuralgic amyotrophy is a rare disorder, but its specific html:p autosomal dominant SEPT9 https://ghr.nlm.nih.gov/gene/SEPT9 Amyotrophic Neuralgia db key 2009-09 2017-12-29
prevalence is unknown. Approximately 200 families affected by the disorder have Brachial Neuralgia GTR C1834304
been identified worldwide. Brachial Neuritis db key
Brachial Plexus Neuritis GeneReviews hna
familial brachial plexus neuritis db key
hereditary brachial plexus neuropathy ICD-10-CM G54.5
html:p heredofamilial neuritis with brachial plexus predilection db key
HNA MeSH D020968
NAPB db key
Neuralgic Amyotrophy OMIM 162100
neuritis with brachial predilection db key
Shoulder Girdle Neuropathy Orphanet 2901
db key
html:p SNOMED CT 26609002
html:p
related-gene-list
Hereditary neuropathy with liability to pressure palsies https://ghr.nlm.nih.gov/condition/hereditary-neuropathy-with-liability-to-pressu Hereditary neuropathy with liability to pressure palsies is estimated to html:p autosomal dominant PMP22 https://ghr.nlm.nih.gov/gene/PMP22 compression neuropathy db key 2016-07 2017-12-29
re-palsies occur in 2 to 5 per 100,000 individuals. entrapment neuropathy GTR C0393814
familial pressure sensitive neuropathy db key
hereditary motor and sensory neuropathy GeneReviews hnpp
hereditary pressure sensitive neuropathy db key
HNPP MeSH D006211
inherited tendency to pressure palsies db key
tomaculous neuropathy MeSH D015417
html:p db key
OMIM 162500
db key
Orphanet 640
db key
SNOMED CT 230558006
html:p
html:p
related-gene-list
Hereditary pancreatitis https://ghr.nlm.nih.gov/condition/hereditary-pancreatitis Hereditary pancreatitis is thought to be a rare condition. In Europe, its html:p autosomal dominant CFTR https://ghr.nlm.nih.gov/gene/CFTR autosomal dominant hereditary pancreatitis db key 2012-10 2017-12-29
prevalence is estimated to be 3 to 6 per million individuals. related-gene gene-symbol ghr-page familial pancreatitis GTR C0238339
CTRC https://ghr.nlm.nih.gov/gene/CTRC hereditary chronic pancreatitis db key
related-gene gene-symbol ghr-page HP GeneReviews pancreatitis-ov
PRSS1 https://ghr.nlm.nih.gov/gene/PRSS1 db key
html:p related-gene gene-symbol ghr-page GeneReviews prss1-hp
SPINK1 https://ghr.nlm.nih.gov/gene/SPINK1 db key
ICD-10-CM K86.1
db key
MeSH D050500
db key
OMIM 167800
db key
Orphanet 676
db key
SNOMED CT 235949005
db key
SNOMED CT 235956004
html:p db key
SNOMED CT 68072000
html:p
html:p
related-gene-list
Hereditary paraganglioma-pheochromocytoma https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma Hereditary paraganglioma-pheochromocytoma occurs in approximately 1 in 1 html:p autosomal dominant SDHA https://ghr.nlm.nih.gov/gene/SDHA familial paraganglioma-pheochromocytoma syndromes db key 2016-11 2017-12-29
million people. related-gene gene-symbol ghr-page familial paraganglioma syndrome GTR C1854336
SDHAF2 https://ghr.nlm.nih.gov/gene/SDHAF2 FPGL db key
related-gene gene-symbol ghr-page FPGL/PHEO GTR C1861848
SDHB https://ghr.nlm.nih.gov/gene/SDHB hereditary paraganglioma-pheochromocytoma syndromes db key
related-gene gene-symbol ghr-page hereditary pheochromocytoma-paraganglioma GTR C1866552
SDHC https://ghr.nlm.nih.gov/gene/SDHC paragangliomas 1 db key
related-gene gene-symbol ghr-page paragangliomas 2 GTR C1868633
SDHD https://ghr.nlm.nih.gov/gene/SDHD paragangliomas 3 db key
html:p paragangliomas 4 GTR C3279992
db key
GeneReviews paragangliomas
db key
MeSH D010235
db key
OMIM 115310
db key
OMIM 168000
db key
html:p OMIM 601650
db key
OMIM 605373
db key
OMIM 614165
html:p db key
Orphanet 29072
db key
SNOMED CT 716857003
html:p
html:p
related-gene-list
Hereditary sensory and autonomic neuropathy type IE https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty HSAN IE is a rare disorder; its prevalence is unknown. Small numbers of html:p autosomal dominant DNMT1 https://ghr.nlm.nih.gov/gene/DNMT1 DNMT1-complex disorder db key 2017-06 2017-12-29
pe-ie affected families have been identified in populations around the world. DNMT1-related dementia, deafness, and sensory neuropathy GTR C3279885
hereditary sensory and autonomic neuropathy type 1 with dementia and hearing db key
loss GeneReviews dnmt1-ddsn
html:p hereditary sensory neuropathy type IE db key
HSAN1E MeSH D009477
HSN IE db key
HSNIE OMIM 614116
html:p db key
Orphanet 36386
db key
SNOMED CT 397734008
html:p
html:p
related-gene-list
Hereditary sensory and autonomic neuropathy type II https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty HSAN2 is a rare disease; however, the prevalence is unknown. html:p autosomal recessive KIF1A https://ghr.nlm.nih.gov/gene/KIF1A congenital sensory neuropathy db key 2017-04 2017-12-29
pe-ii related-gene gene-symbol ghr-page hereditary sensory and autonomic neuropathy type 2 GTR C0020072
RETREG1 https://ghr.nlm.nih.gov/gene/RETREG1 HSAN type II db key
related-gene gene-symbol ghr-page HSAN2 GTR C2751092
SCN9A https://ghr.nlm.nih.gov/gene/SCN9A HSAN2A db key
related-gene gene-symbol ghr-page HSAN2B GTR C2752089
WNK1 https://ghr.nlm.nih.gov/gene/WNK1 HSAN2C db key
HSAN2D GeneReviews hsan2
HSANII db key
html:p HSN type II MeSH D009477
Morvan disease db key
OMIM 201300
db key
OMIM 613115
db key
Orphanet 970
db key
SNOMED CT 398148000
html:p
html:p
related-gene-list
Hereditary sensory and autonomic neuropathy type V https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty HSAN5 is very rare. Only a few people with the condition have been html:p autosomal recessive NGF https://ghr.nlm.nih.gov/gene/NGF congenital insensitivity to pain db key 2011-07 2017-12-29
pe-v identified. congenital sensory neuropathy with selective loss of small myelinated fibers GTR C0020075
hereditary sensory and autonomic neuropathy, type 5 db key
HSAN type V MeSH D009477
html:p HSAN V db key
HSAN5 OMIM 608654
db key
Orphanet 64752
db key
SNOMED CT 128206006
related-gene-list
Hereditary sensory neuropathy type IA https://ghr.nlm.nih.gov/condition/hereditary-sensory-neuropathy-type-ia Hereditary sensory neuropathy type IA is a rare condition; its prevalence html:p autosomal dominant SPTLC1 https://ghr.nlm.nih.gov/gene/SPTLC1 autosomal dominant hereditary sensory radicular neuropathy, type 1A db key 2015-03 2017-12-29
is estimated to be 1 to 2 per 100,000 individuals. hereditary sensory and autonomic neuropathy, type IA GTR C0020071
HSAN IA db key
HSAN1A GeneReviews hsn1
HSN IA db key
HSN1A ICD-10-CM G60.8
db key
MeSH D009477
db key
OMIM 162400
html:p db key
Orphanet 36386
db key
SNOMED CT 397734008
html:p
html:p
related-gene-list
Hereditary spherocytosis https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis Hereditary spherocytosis occurs in 1 in 2,000 individuals of Northern html:p autosomal dominant ANK1 https://ghr.nlm.nih.gov/gene/ANK1 congenital spherocytic hemolytic anemia db key 2013-09 2017-12-29
European ancestry. This condition is the most common cause of inherited anemia memo related-gene gene-symbol ghr-page congenital spherocytosis GTR C0037889
in that population. The prevalence of hereditary spherocytosis in people of autosomal recessive EPB42 https://ghr.nlm.nih.gov/gene/EPB42 HS db key
other ethnic backgrounds is unknown, but it is much less common. related-gene gene-symbol ghr-page spherocytic anemia GTR C2674219
SLC4A1 https://ghr.nlm.nih.gov/gene/SLC4A1 spherocytosis, type 1 db key
related-gene gene-symbol ghr-page GTR C2675192
SPTA1 https://ghr.nlm.nih.gov/gene/SPTA1 db key
related-gene gene-symbol ghr-page GTR C2675212
html:p SPTB https://ghr.nlm.nih.gov/gene/SPTB db key
GTR C2678338
db key
GTR CN068423
db key
GeneReviews epb42-spherocytosis
html:p db key
ICD-10-CM D58.0
db key
MeSH D013103
db key
OMIM 182870
db key
OMIM 182900
db key
OMIM 270970
db key
OMIM 612653
db key
OMIM 612690
db key
Orphanet 822
db key
related-gene-list SNOMED CT 55995005
Hereditary xanthinuria https://ghr.nlm.nih.gov/condition/hereditary-xanthinuria The combined incidence of hereditary xanthinuria types I and II is html:p autosomal recessive MOCOS https://ghr.nlm.nih.gov/gene/MOCOS combined deficiency of xanthine dehydrogenase and aldehyde oxidase db key 2015-12 2017-12-29
estimated to be about 1 in 69,000 people worldwide. However, researchers suspect related-gene gene-symbol ghr-page xanthine dehydrogenase deficiency GTR C0268118
that the true incidence may be higher because some affected individuals have no XDH https://ghr.nlm.nih.gov/gene/XDH xanthine oxidase deficiency db key
symptoms and are never diagnosed with the condition. Hereditary xanthinuria xanthinuria GTR C1863688
appears to be more common in people of Mediterranean or Middle Eastern ancestry. XDH deficiency db key
About 150 cases of this condition have been reported in the medical literature. MeSH D008661
db key
OMIM 278300
db key
OMIM 603592
html:p db key
Orphanet 3467
db key
Orphanet 93601
db key
Orphanet 93602
db key
SNOMED CT 124147007
db key
SNOMED CT 29692004
db key
SNOMED CT 54627004
db key
related-gene-list SNOMED CT 72682008
Hermansky-Pudlak syndrome https://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome Hermansky-Pudlak syndrome is a rare disorder in most populations and is html:p autosomal recessive AP3B1 https://ghr.nlm.nih.gov/gene/AP3B1 HPS db key 2014-05 2017-12-29
estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is related-gene gene-symbol ghr-page GTR C0079504
more common in Puerto Rico, particularly in the northwestern part of the island BLOC1S3 https://ghr.nlm.nih.gov/gene/BLOC1S3 db key
where about 1 in 1,800 people are affected. Type 3 is common in people from related-gene gene-symbol ghr-page GTR C2931875
central Puerto Rico. Groups of affected individuals have been identified in many BLOC1S6 https://ghr.nlm.nih.gov/gene/BLOC1S6 db key
other regions, including India, Japan, the United Kingdom, and Western Europe. related-gene gene-symbol ghr-page GeneReviews hps
DTNBP1 https://ghr.nlm.nih.gov/gene/DTNBP1 db key
related-gene gene-symbol ghr-page ICD-10-CM E70.331
HPS1 https://ghr.nlm.nih.gov/gene/HPS1 db key
related-gene gene-symbol ghr-page MeSH D022861
HPS3 https://ghr.nlm.nih.gov/gene/HPS3 db key
html:p related-gene gene-symbol ghr-page OMIM 203300
HPS4 https://ghr.nlm.nih.gov/gene/HPS4 db key
html:p related-gene gene-symbol ghr-page Orphanet 79430
HPS5 https://ghr.nlm.nih.gov/gene/HPS5 db key
related-gene gene-symbol ghr-page SNOMED CT 9311003
HPS6 https://ghr.nlm.nih.gov/gene/HPS6
html:p
html:p
related-gene-list
Heterotaxy syndrome https://ghr.nlm.nih.gov/condition/heterotaxy-syndrome The prevalence of heterotaxy syndrome is estimated to be 1 in 10,000 people html:p autosomal dominant ACVR2B https://ghr.nlm.nih.gov/gene/ACVR2B heterotaxy db key 2016-01 2017-12-29
worldwide. However, researchers suspect that the condition is underdiagnosed, memo related-gene gene-symbol ghr-page HTX GTR C1844020
and so it may actually be more common than this. Heterotaxy syndrome accounts autosomal recessive CFAP53 https://ghr.nlm.nih.gov/gene/CFAP53 Ivemark syndrome db key
for approximately 3 percent of all congenital s. For reasons that memo related-gene gene-symbol ghr-page left isomerism GTR C1853444
are unknown, the condition appears to be more common in Asian populations than not inherited CFC1 https://ghr.nlm.nih.gov/gene/CFC1 right isomerism db key
in North America and Europe. Recent studies report that in the United States, html:p memo related-gene gene-symbol ghr-page situs ambiguus GTR C1853509
the condition occurs more frequently in children born to black or Hispanic X-linked CITED2 https://ghr.nlm.nih.gov/gene/CITED2 situs ambiguus viscerum db key
mothers than in children born to white mothers. related-gene gene-symbol ghr-page visceral heterotaxy GTR C1854334
CRELD1 https://ghr.nlm.nih.gov/gene/CRELD1 db key
related-gene gene-symbol ghr-page GTR C3151057
DNAH5 https://ghr.nlm.nih.gov/gene/DNAH5 db key
related-gene gene-symbol ghr-page GTR C3178805
DNAH11 https://ghr.nlm.nih.gov/gene/DNAH11 db key
related-gene gene-symbol ghr-page GTR C3495537
DNAI1 https://ghr.nlm.nih.gov/gene/DNAI1 db key
related-gene gene-symbol ghr-page GTR C3553676
FOXH1 https://ghr.nlm.nih.gov/gene/FOXH1 db key
html:p related-gene gene-symbol ghr-page GeneReviews pcd
GATA4 https://ghr.nlm.nih.gov/gene/GATA4 db key
related-gene gene-symbol ghr-page ICD-10-CM Q89.3
GDF1 https://ghr.nlm.nih.gov/gene/GDF1 db key
related-gene gene-symbol ghr-page MeSH D059446
GJA1 https://ghr.nlm.nih.gov/gene/GJA1 db key
related-gene gene-symbol ghr-page OMIM 208530
LEFTY2 https://ghr.nlm.nih.gov/gene/LEFTY2 db key
related-gene gene-symbol ghr-page OMIM 270100
MMP21 https://ghr.nlm.nih.gov/gene/MMP21 db key
html:p related-gene gene-symbol ghr-page OMIM 306955
NAT10 https://ghr.nlm.nih.gov/gene/NAT10 db key
related-gene gene-symbol ghr-page OMIM 605376
NKX2-5 https://ghr.nlm.nih.gov/gene/NKX2-5 db key
related-gene gene-symbol ghr-page OMIM 606217
NODAL https://ghr.nlm.nih.gov/gene/NODAL db key
related-gene gene-symbol ghr-page OMIM 606325
SESN1 https://ghr.nlm.nih.gov/gene/SESN1 db key
related-gene gene-symbol ghr-page OMIM 613751
SHROOM3 https://ghr.nlm.nih.gov/gene/SHROOM3 db key
related-gene gene-symbol ghr-page OMIM 614779
SMAD2 https://ghr.nlm.nih.gov/gene/SMAD2 db key
related-gene gene-symbol ghr-page Orphanet 137628
ZIC3 https://ghr.nlm.nih.gov/gene/ZIC3 db key
Orphanet 157769
db key
Orphanet 97548
db key
SNOMED CT 14821001
db key
related-gene-list SNOMED CT 8641000119101
Hidradenitis suppurativa https://ghr.nlm.nih.gov/condition/hidradenitis-suppurativa Hidradenitis suppurativa was once thought to be a rare condition because html:p autosomal dominant NCSTN https://ghr.nlm.nih.gov/gene/NCSTN acne inversa db key 2013-12 2017-12-29
only the most severe cases were reported. However, recent studies have shown related-gene gene-symbol ghr-page hidradenitides, suppurative GTR C1840560
that the condition affects at least 1 in 100 people when milder cases are also PSEN1 https://ghr.nlm.nih.gov/gene/PSEN1 hidradenitis, suppurative db key
considered. For reasons that are unclear, women are about twice as likely as men related-gene gene-symbol ghr-page suppurative hidradenitides ICD-10-CM L73.2
to develop the condition. PSENEN https://ghr.nlm.nih.gov/gene/PSENEN suppurative hidradenitis db key
html:p MeSH D017497
db key
OMIM 142690
db key
OMIM 613736
html:p db key
OMIM 613737
db key
Orphanet 387
db key
related-gene-list SNOMED CT 59393003
Hirschsprung disease https://ghr.nlm.nih.gov/condition/hirschsprung-disease Hirschsprung disease occurs in approximately 1 in 5,000 newborns. html:p autosomal dominant EDN3 https://ghr.nlm.nih.gov/gene/EDN3 aganglionic megacolon db key 2012-08 2017-12-29
related-gene gene-symbol ghr-page congenital intestinal aganglionosis GTR C1838564
EDNRB https://ghr.nlm.nih.gov/gene/EDNRB congenital megacolon db key
related-gene gene-symbol ghr-page Hirschsprung's disease GTR C2931739
GDNF https://ghr.nlm.nih.gov/gene/GDNF HSCR db key
html:p related-gene gene-symbol ghr-page GTR C2931876
NRG1 https://ghr.nlm.nih.gov/gene/NRG1 db key
related-gene gene-symbol ghr-page GTR C3150975
NRTN https://ghr.nlm.nih.gov/gene/NRTN db key
related-gene gene-symbol ghr-page GeneReviews hirschsprung-ov
RET https://ghr.nlm.nih.gov/gene/RET db key
ICD-10-CM Q43.1
db key
MeSH D006627
html:p db key
OMIM 142623
db key
OMIM 600155
db key
OMIM 613711
db key
OMIM 613712
db key
SNOMED CT 204739008
db key
SNOMED CT 253780003
html:p
related-gene-list
Histidinemia https://ghr.nlm.nih.gov/condition/histidinemia Estimates of the incidence of histidinemia vary widely, ranging between 1 html:p autosomal recessive HAL https://ghr.nlm.nih.gov/gene/HAL HAL deficiency db key 2009-08 2017-12-29
in 8,600 to 1 in 90,000 people. HIS deficiency GTR C0220992
histidase deficiency db key
histidine ammonia-lyase deficiency ICD-10-CM E70.41
hyperhistidinemia db key
html:p MeSH D000592
db key
OMIM 235800
db key
Orphanet 2157
db key
SNOMED CT 124628005
db key
related-gene-list SNOMED CT 410058007
Histiocytosis-lymphadenopathy plus syndrome https://ghr.nlm.nih.gov/condition/histiocytosis-lymphadenopathy-plus-syndrome Histiocytosis-lymphadenopathy plus syndrome is a rare disorder, affecting html:p ar autosomal recessive SLC29A3 synonym db-key db key 2014-12 2017-12-29
approximately 100 individuals worldwide. synonym GTR C1864445
db-key db key
MeSH D015614
db-key db key
OMIM 602782
db-key db key
Orphanet 158014
db-key db key
Orphanet 168569
db-key db key
html:p SNOMED CT 711159002
html:p
html:p
html:p
html:p
inheritance-pattern-list related-gene-list
HIVEP2-related disability https://ghr.nlm.nih.gov/condition/hivep2-related--disability HIVEP2-related disability is a rare disorder. At least nine html:p ad autosomal dominant ghr-page mental retardation, autosomal dominant 43 db-key db key 2017-01 2017-12-29
individuals with the condition have been described in the medical literature. https://ghr.nlm.nih.gov/gene/HIVEP2 MRD43 MeSH D008607
db-key db key
OMIM 616977
html:p
related-gene-list
Holocarboxylase synthetase deficiency https://ghr.nlm.nih.gov/condition/holocarboxylase-synthetase-deficiency The exact incidence of this condition is unknown, but it is estimated to html:p autosomal recessive HLCS https://ghr.nlm.nih.gov/gene/HLCS Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency db key 2007-06 2017-12-29
affect 1 in 87,000 people. Early-Onset Combined Carboxylase Deficiency GTR C0268581
HLCS deficiency db key
Infantile Multiple Carboxylase Deficiency ICD-10-CM D81.818
html:p Multiple Carboxylase Deficiency, Neonatal Form db key
MeSH D028922
db key
OMIM 253270
db key
Orphanet 148
db key
SNOMED CT 15307001
related-gene-list
Holt-Oram syndrome https://ghr.nlm.nih.gov/condition/holt-oram-syndrome Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals. html:p autosomal dominant TBX5 https://ghr.nlm.nih.gov/gene/TBX5 atrio-digital syndrome db key 2014-06 2017-12-29
atriodigital dysplasia GTR C0265264
html:p cardiac-limb syndrome db key
heart-hand syndrome, type 1 GeneReviews hos
HOS db key
ventriculo-radial syndrome MeSH D006330
db key
MeSH D038062
db key
OMIM 142900
db key
Orphanet 392
db key
SNOMED CT 19092004
html:p
html:p
related-gene-list
Homocystinuria https://ghr.nlm.nih.gov/condition/homocystinuria The most common form of homocystinuria affects at least 1 in 200,000 to html:p autosomal recessive CBS https://ghr.nlm.nih.gov/gene/CBS cystathionine beta synthase deficiency db key 2016-03 2017-12-29
335,000 people worldwide. The disorder appears to be more common in some related-gene gene-symbol ghr-page homocysteinemia GTR C0019880
countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in MMADHC https://ghr.nlm.nih.gov/gene/MMADHC db key
6,400), and Qatar (1 in 1,800). The rarer forms of homocystinuria each have a related-gene gene-symbol ghr-page GTR C1848553
small number of cases reported in the scientific literature. MTHFR https://ghr.nlm.nih.gov/gene/MTHFR db key
related-gene gene-symbol ghr-page GTR C1856058
MTR https://ghr.nlm.nih.gov/gene/MTR db key
related-gene gene-symbol ghr-page GTR C3150344
html:p MTRR https://ghr.nlm.nih.gov/gene/MTRR db key
GeneReviews cbl
db key
GeneReviews homocystinuria
db key
ICD-10-CM E72.11
html:p db key
ICD-10-CM E72.12
db key
MeSH D006712
db key
OMIM 236200
db key
OMIM 236250
db key
OMIM 236270
db key
OMIM 250940
db key
OMIM 277410
db key
Orphanet 394
db key
Orphanet 395
db key
Orphanet 622
db key
SNOMED CT 11282001
db key
SNOMED CT 24308003
db key
SNOMED CT 28093001
db key
related-gene-list SNOMED CT 360373000
Horizontal gaze palsy with progressive scoliosis https://ghr.nlm.nih.gov/condition/horizontal-gaze-palsy-with-progressive-scolios HGPPS has been reported in several dozen families worldwide. html:p autosomal recessive ROBO3 https://ghr.nlm.nih.gov/gene/ROBO3 familial horizontal gaze palsy with progressive scoliosis db key 2009-03 2017-12-29
is familial idiopathic scoliosis associated with congenital encephalopathy GTR C1846496
familial infantile scoliosis associated with bilateral paralysis of conjugate db key
gaze MeSH D012600
gaze palsy, familial horizontal, with progressive scoliosis db key
HGPPS MeSH D015785
html:p ophthalmoplegia, progressive external, and scoliosis db key
OMIM 607313
db key
Orphanet 2744
db key
synonym-list db-key-list SNOMED CT 702381007
Horner syndrome https://ghr.nlm.nih.gov/condition/horner-syndrome About 1 in 6,250 babies are born with Horner syndrome. The incidence of html:p autosomal dominant synonym Horner's syndrome key 2017-12-29
Horner syndrome that appears later is unknown, but it is considered an uncommon synonym oculosympathetic palsy db-key C1840475
disorder. synonym von Passow syndrome key
db-key G90.2
html:p key
db-key D006732
key
db-key 143000
key
db-key 164018003
key
db-key 192915005
key
html:p 271730003
related-gene-list
Huntington disease https://ghr.nlm.nih.gov/condition/huntington-disease Huntington disease affects an estimated 3 to 7 per 100,000 people of html:p autosomal dominant HTT https://ghr.nlm.nih.gov/gene/HTT Huntington chorea db key 2013-06 2017-12-29
European ancestry. The disorder appears to be less common in some other Huntington chronic progressive hereditary chorea GTR C0020179
populations, including people of Japanese, Chinese, and African descent. html:p Huntington's chorea db key
Huntington's disease GTR C0751208
db key
GeneReviews huntington
db key
ICD-10-CM G10
db key
MeSH D006816
db key
OMIM 143100
db key
html:p Orphanet 399
db key
SNOMED CT 230299004
db key
SNOMED CT 230300007
db key
SNOMED CT 58756001
related-gene-list
Huntington disease-like syndrome https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome Overall, HDL syndromes are rare. They are much less common than Huntington html:p autosomal dominant JPH3 https://ghr.nlm.nih.gov/gene/JPH3 Huntington disease-like syndromes db key 2008-08 2017-12-29
disease, which affects an estimated 3 to 7 per 100,000 people of European memo related-gene gene-symbol ghr-page Huntington's disease-like syndromes GTR C1846707
ancestry.Of the four described HDL syndromes, HDL4 appears to be the most autosomal recessive PRNP https://ghr.nlm.nih.gov/gene/PRNP Huntington's disease phenocopies db key
common. HDL2 is the second most common and occurs almost exclusively in people related-gene gene-symbol ghr-page Huntington's disease phenocopy syndromes GTR C1847987
of African heritage (especially black South Africans). HDL1 has been reported TBP https://ghr.nlm.nih.gov/gene/TBP db key
in only one family. HDL3 has been found in two families, both of which were GTR C1858114
from Saudi Arabia. db key
GTR C1864112
html:p db key
GeneReviews hd-l2
db key
GeneReviews sca17
db key
MeSH D006816
db key
MeSH D020271
db key
OMIM 603218
db key
html:p OMIM 604802
db key
OMIM 606438
db key
OMIM 607136
db key
Orphanet 158266
db key
related-gene-list SNOMED CT 702376003
Hutchinson-Gilford progeria syndrome https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome This condition is very rare; it is reported to occur in 1 in 4 million html:p autosomal dominant LMNA https://ghr.nlm.nih.gov/gene/LMNA HGPS db key 2016-05 2017-12-29
newborns worldwide. More than 130 cases have been reported in the scientific Hutchinson-Gilford syndrome GTR C0033300
literature since the condition was first described in 1886. progeria db key
progeria of childhood GTR C2750285
db key
GTR C4016241
db key
GeneReviews hgps
db key
MeSH D011371
html:p db key
OMIM 176670
db key
Orphanet 740
db key
related-gene-list SNOMED CT 238870004
Hypercholesterolemia https://ghr.nlm.nih.gov/condition/hypercholesterolemia More than 34 million American adults have elevated blood cholesterol levels html:p autosomal dominant APOB https://ghr.nlm.nih.gov/gene/APOB Elevated cholesterol db key 2007-03 2017-12-29
(higher than 240 mg/dL). Inherited forms of hypercholesterolemia, which cause memo related-gene gene-symbol ghr-page GTR C0020445
even higher levels of cholesterol, occur less frequently. The most common autosomal recessive LDLR https://ghr.nlm.nih.gov/gene/LDLR db key
inherited form of high cholesterol is called familial hypercholesterolemia. related-gene gene-symbol ghr-page GTR C1704417
This condition affects about 1 in 500 people in most countries. Familial LDLRAP1 https://ghr.nlm.nih.gov/gene/LDLRAP1 db key
hypercholesterolemia occurs more frequently in certain populations, including related-gene gene-symbol ghr-page GTR C1863512
Afrikaners in South Africa, French Canadians, Lebanese, and Finns. PCSK9 https://ghr.nlm.nih.gov/gene/PCSK9 db key
html:p GTR C1863551
db key
GeneReviews hyperchol
db key
ICD-10-CM E78.0
db key
MeSH D006937
db key
OMIM 143890
html:p db key
OMIM 144010
db key
OMIM 603776
db key
OMIM 603813
db key
Orphanet 406
db key
SNOMED CT 238076009
db key
SNOMED CT 238081000
db key
SNOMED CT 397915002
db key
related-gene-list SNOMED CT 398036000
Hyperferritinemia-cataract syndrome https://ghr.nlm.nih.gov/condition/hyperferritinemia-cataract-syndrome Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in html:p autosomal dominant FTL https://ghr.nlm.nih.gov/gene/FTL Bonneau-Beaumont syndrome db key 2012-08 2017-12-29
200,000 individuals. hereditary hyperferritinemia-cataract syndrome GTR C1833213
hereditary hyperferritinemia with congenital cataracts db key
HHCS MeSH D019189
db key
OMIM 600886
db key
Orphanet 163
html:p db key
SNOMED CT 702398007
related-gene-list
Hyperkalemic periodic paralysis https://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people. html:p autosomal dominant SCN4A https://ghr.nlm.nih.gov/gene/SCN4A adynamia episodica hereditaria db key 2013-08 2017-12-29
familial hyperkalemic periodic paralysis GTR C0238357
Gamstorp disease db key
Gamstorp episodic adynamy GTR CN074266
hyperKPP db key
hyperPP GeneReviews hyper-pp
primary hyperkalemic periodic paralysis db key
ICD-10-CM G72.3
db key
MeSH D020513
html:p db key
OMIM 170500
db key
Orphanet 682
db key
SNOMED CT 304737009
related-gene-list
Hyperlysinemia https://ghr.nlm.nih.gov/condition/hyperlysinemia The incidence of hyperlysinemia is unknown. html:p autosomal recessive AASS https://ghr.nlm.nih.gov/gene/AASS alpha-aminoadipic semialdehyde deficiency disease db key 2009-08 2017-12-29
familial hyperlysinemia GTR C0268553
lysine alpha-ketoglutarate reductase deficiency disease db key
saccharopine dehydrogenase deficiency disease GTR C0268556
saccharopinuria db key
ICD-10-CM E72.3
db key
MeSH D020167
db key
OMIM 238700
db key
OMIM 268700
db key
Orphanet 2203
db key
SNOMED CT 111397004
db key
SNOMED CT 340519003
db key
SNOMED CT 341536001
db key
SNOMED CT 342553006
db key
SNOMED CT 58558003
db key
related-gene-list SNOMED CT 66002008
Hypermanganesemia with dystonia https://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia The prevalence of hypermanganesemia with dystonia is unknown. A small html:p autosomal recessive SLC30A10 https://ghr.nlm.nih.gov/gene/SLC30A10 familial manganese-induced neurotoxicity db key 2017-10 2017-12-29
number of cases of each type have been described in the scientific literature. related-gene gene-symbol ghr-page HMNDYT GTR C2750442
SLC39A14 https://ghr.nlm.nih.gov/gene/SLC39A14 db key
GTR C4310765
db key
GeneReviews hmdpc
db key
GeneReviews slc39a14-def
db key
MeSH D008664
html:p db key
OMIM 613280
db key
OMIM 617013
db key
Orphanet 309854
db key
SNOMED CT 702377007
html:p
html:p
related-gene-list
Hypermethioninemia https://ghr.nlm.nih.gov/condition/hypermethioninemia Primary hypermethioninemia that is not caused by other disorders or excess html:p autosomal dominant AHCY https://ghr.nlm.nih.gov/gene/AHCY Deficiency of methionine adenosyltransferase db key 2007-04 2017-12-29
methionine intake appears to be rare; only a small number of cases have been memo related-gene gene-symbol ghr-page glycine N-methyltransferase deficiency GTR C0268621
reported. The actual incidence is difficult to determine, however, since many autosomal recessive GNMT https://ghr.nlm.nih.gov/gene/GNMT GNMT deficiency db key
individuals with hypermethioninemia have no symptoms. html:p related-gene gene-symbol ghr-page Hepatic methionine adenosyltransferase deficiency GTR C1847720
MAT1A https://ghr.nlm.nih.gov/gene/MAT1A MAT deficiency db key
MET GTR C3151058
methionine adenosyltransferase deficiency db key
methioninemia MeSH D000592
html:p S-adenosylhomocysteine hydrolase deficiency db key
OMIM 250850
db key
OMIM 606664
db key
OMIM 613752
db key
Orphanet 168598
db key
Orphanet 289891
db key
Orphanet 88618
db key
SNOMED CT 124283007
db key
related-gene-list SNOMED CT 43123004
Hyperparathyroidism-jaw tumor syndrome https://ghr.nlm.nih.gov/condition/hyperparathyroidism-jaw-tumor-syndrome The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. html:p autosomal dominant CDC73 https://ghr.nlm.nih.gov/gene/CDC73 familial cystic parathyroid adenomatosis db key 2010-07 2017-12-29
Approximately 200 cases have been reported in the medical literature. familial primary hyperparathyroidism with multiple ossifying jaw fibromas GTR C1704981
hereditary hyperparathyroidism-jaw tumor syndrome db key
HPT-JT GeneReviews hrpt2
hyperparathyroidism 2 db key
MeSH D049950
db key
html:p OMIM 145001
db key
Orphanet 99880
db key
SNOMED CT 702378002
html:p
related-gene-list
Hyperphosphatemic familial tumoral calcinosis https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis The prevalence of HFTC is unknown, but it is thought to be a rare html:p autosomal recessive FGF23 https://ghr.nlm.nih.gov/gene/FGF23 HFTC db key 2012-08 2017-12-29
condition. It occurs most often in Middle Eastern and African populations. related-gene gene-symbol ghr-page hyperphosphatemia hyperostosis GTR C1876187
GALNT3 https://ghr.nlm.nih.gov/gene/GALNT3 hyperphosphatemia hyperostosis syndrome db key
related-gene gene-symbol ghr-page hyperphosphatemia tumoral calcinosis MeSH D054559
KL https://ghr.nlm.nih.gov/gene/KL primary hyperphosphatemic tumoral calcinosis db key
OMIM 211900
db key
Orphanet 53715
db key
SNOMED CT 20165001
db key
SNOMED CT 61778004
html:p
html:p
related-gene-list
Hyperprolinemia https://ghr.nlm.nih.gov/condition/hyperprolinemia It is difficult to determine the prevalence of hyperprolinemia type I html:p autosomal recessive ALDH4A1 https://ghr.nlm.nih.gov/gene/ALDH4A1 proline oxidase deficiency db key 2007-06 2017-12-29
because most people with the condition do not have any symptoms. Hyperprolinemia related-gene gene-symbol ghr-page prolinemia GTR C0268529
type II is a rare condition; its prevalence is also unknown. PRODH https://ghr.nlm.nih.gov/gene/PRODH pyrroline-5-carboxylate dehydrogenase deficiency db key
pyrroline carboxylate dehydrogenase deficiency GTR C2931835
html:p db key
MeSH D000592
db key
OMIM 239500
html:p db key
OMIM 239510
db key
Orphanet 419
db key
html:p Orphanet 79101
db key
SNOMED CT 59655002
related-gene-list
Hypochondrogenesis https://ghr.nlm.nih.gov/condition/hypochondrogenesis Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal html:p autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 achondrogenesis type II/hypochondrogenesis db key 2008-07 2017-12-29
disorder) together affect 1 in 40,000 to 60,000 newborns. GTR C0220685
db key
html:p GTR C0542428
db key
ICD-10-CM Q77.0
db key
MeSH D003095
db key
MeSH D010009
db key
html:p OMIM 200610
db key
Orphanet 932
db key
SNOMED CT 205483007
db key
related-gene-list SNOMED CT 254061001
Hypochondroplasia https://ghr.nlm.nih.gov/condition/hypochondroplasia The incidence of hypochondroplasia is unknown. Researchers believe that it html:p autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 HCH db key 2012-10 2017-12-29
may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 Hypochondrodysplasia GTR C0410529
newborns. More than 200 people worldwide have been diagnosed with db key
hypochondroplasia. GeneReviews hypochondroplasia
db key
html:p ICD-10-CM Q77.4
db key
MeSH D004392
db key
html:p OMIM 146000
db key
Orphanet 429
db key
SNOMED CT 205468002
related-gene-list
Hypochromic microcytic anemia with iron overload https://ghr.nlm.nih.gov/condition/hypochromic-microcytic-anemia-with-iron-overlo Hypochromic microcytic anemia with iron overload is likely a rare disorder; html:p autosomal recessive SLC11A2 https://ghr.nlm.nih.gov/gene/SLC11A2 microcytic anemia and hepatic iron overload db key 2014-11 2017-12-29
ad at least five affected families have been reported in the scientific microcytic anemia with liver iron overload GTR C2673913
literature. db key
MeSH D000747
db key
OMIM 206100
db key
Orphanet 83642
db key
html:p SNOMED CT 711161006
related-gene-list
Hypohidrotic ectodermal dysplasia https://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia Hypohidrotic ectodermal dysplasia is the most common form of ectodermal html:p autosomal dominant EDA https://ghr.nlm.nih.gov/gene/EDA Anhidrotic Ectodermal Dysplasia db key 2006-08 2017-12-29
dysplasia in humans. It is estimated to affect at least 1 in 17,000 people memo related-gene gene-symbol ghr-page Christ-Siemens-Touraine Syndrome GTR C0162359
worldwide. autosomal recessive EDAR https://ghr.nlm.nih.gov/gene/EDAR CST syndrome db key
memo related-gene gene-symbol ghr-page HED GTR C0406702
html:p X-linked recessive EDARADD https://ghr.nlm.nih.gov/gene/EDARADD db key
GTR C1720965
db key
GeneReviews x-hed
db key
ICD-10-CM Q82.4
db key
html:p MeSH D053358
db key
MeSH D053359
db key
html:p MeSH D053360
db key
OMIM 129490
db key
OMIM 224900
db key
OMIM 305100
db key
Orphanet 181
db key
Orphanet 248
db key
Orphanet 1810
db key
SNOMED CT 239007005
db key
SNOMED CT 27025001
db key
related-gene-list SNOMED CT 7731005
Hypokalemic periodic paralysis https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis Although its exact prevalence is unknown, hypokalemic periodic paralysis is html:p autosomal dominant CACNA1S https://ghr.nlm.nih.gov/gene/CACNA1S Familial Hypokalemic Periodic Paralysis db key 2017-10 2017-12-29
estimated to affect 1 in 100,000 people. Men tend to experience symptoms of related-gene gene-symbol ghr-page HOKPP GTR C0238358
this condition more often than women. SCN4A https://ghr.nlm.nih.gov/gene/SCN4A HypoKPP db key
HypoPP GTR C2750061
Primary Hypokalemic Periodic Paralysis db key
Westphall disease GTR C3714580
db key
GeneReviews hpp
db key
ICD-10-CM G72.3
db key
MeSH D020514
html:p db key
OMIM 170400
db key
Orphanet 681
db key
related-gene-list SNOMED CT 82732003
Hypomagnesemia with secondary hypocalcemia https://ghr.nlm.nih.gov/condition/hypomagnesemia-with-secondary-hypocalcemia Hypomagnesemia with secondary hypocalcemia is thought to be a rare html:p autosomal recessive TRPM6 https://ghr.nlm.nih.gov/gene/TRPM6 familial primary hypomagnesemia with hypocalcuria db key 2015-01 2017-12-29
condition, but its prevalence is unknown. HOMG GTR C1865974
HSH db key
hypomagnesemic tetany MeSH D006996
html:p intestinal hypomagnesemia 1 db key
intestinal hypomagnesemia with secondary hypocalcemia OMIM 602014
db key
Orphanet 30924
db key
SNOMED CT 711151004
html:p
related-gene-list
Hypomyelination and congenital cataract https://ghr.nlm.nih.gov/condition/hypomyelination-and-congenital-cataract The prevalence of hypomyelination and congenital cataract is unknown. html:p autosomal recessive FAM126A https://ghr.nlm.nih.gov/gene/FAM126A HCC db key 2009-07 2017-12-29
GTR C1864663
db key
GeneReviews hypo-mcc
db key
MeSH D020279
db key
OMIM 610532
db key
html:p Orphanet 85163
db key
SNOMED CT 702379005
related-gene-list
Hypophosphatasia https://ghr.nlm.nih.gov/condition/hypophosphatasia Severe forms of hypophosphatasia affect an estimated 1 in 100,000 newborns. html:p autosomal dominant ALPL https://ghr.nlm.nih.gov/gene/ALPL Deficiency of alkaline phosphatase db key 2007-09 2017-12-29
Milder cases, such as those that appear in childhood or adulthood, probably memo Phosphoethanolaminuria GTR C0020630
occur more frequently.Hypophosphatasia has been reported worldwide in people of autosomal recessive db key
various ethnic backgrounds. This condition appears to be most common in white GTR C0220743
populations. It is particularly frequent in a Mennonite population in Manitoba, db key
Canada, where about 1 in 2,500 infants is born with severe features of the html:p GTR C0268412
condition. db key
GTR C0268413
db key
GeneReviews hops
db key
MeSH D007014
db key
OMIM 146300
db key
html:p OMIM 241500
db key
OMIM 241510
db key
Orphanet 436
db key
SNOMED CT 190859005
db key
SNOMED CT 20756002
html:p db key
SNOMED CT 30174008
db key
SNOMED CT 360792001
db key
related-gene-list SNOMED CT 55236002
Hystrix-like ichthyosis with deafness https://ghr.nlm.nih.gov/condition/hystrix-like-ichthyosis-with-deafness HID is a rare disorder. Its prevalence is unknown. html:p autosomal dominant GJB2 https://ghr.nlm.nih.gov/gene/GJB2 HID syndrome db key 2012-11 2017-12-29
ichthyosis, hystrix-like, with deafness GTR C1865234
db key
MeSH D007057
html:p db key
OMIM 602540
db key
Orphanet 477
db key
SNOMED CT 254173004
related-gene-list
Ichthyosis with confetti https://ghr.nlm.nih.gov/condition/ichthyosis-with-confetti Ichthyosis with confetti is a rare disorder. Fewer than 20 affected html:p autosomal dominant KRT10 https://ghr.nlm.nih.gov/gene/KRT10 congenital reticular ichthyosiform erythroderma db key 2014-02 2017-12-29
individuals have been described in the medical literature. CRIE GTR C1836681
ichthyosis variegata db key
IWC MeSH D016113
db key
OMIM 609165
html:p db key
Orphanet 281190
db key
SNOMED CT 703504006
related-gene-list
Idiopathic infantile hypercalcemia https://ghr.nlm.nih.gov/condition/idiopathic-infantile-hypercalcemia Infantile hypercalcemia 1 and 2 are thought to be rare conditions, although html:p autosomal recessive CYP24A1 https://ghr.nlm.nih.gov/gene/CYP24A1 autosomal recessive infantile hypercalcemia db key 2017-12 2017-12-29
their prevalence is unknown. related-gene gene-symbol ghr-page IIH GTR CN203398
SLC34A1 https://ghr.nlm.nih.gov/gene/SLC34A1 vitamin D hypersensitivity db key
MeSH D006934
db key
OMIM 143880
db key
OMIM 616963
db key
Orphanet 300547
db key
html:p SNOMED CT 276645004
db key
SNOMED CT 34225008
html:p
html:p
related-gene-list
Idiopathic inflammatory myopathy https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 html:p pattern unknown HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 idiopathic inflammatory myopathies db key 2011-02 2017-12-29
cases per million people each year.For unknown reasons, polymyositis and related-gene gene-symbol ghr-page idiopathic inflammatory myositis GTR C0027121
dermatomyositis are about twice as common in women as in men, while sporadic HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 inflammatory myopathy, idiopathic db key
inclusion body myositis is more common in men. related-gene gene-symbol ghr-page GTR C0238190
html:p IL1A https://ghr.nlm.nih.gov/gene/IL1A db key
related-gene gene-symbol ghr-page MeSH D009220
PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
html:p related-gene gene-symbol ghr-page OMIM 147421
TNF https://ghr.nlm.nih.gov/gene/TNF db key
html:p OMIM 160750
db key
Orphanet 221
db key
Orphanet 611
db key
html:p Orphanet 732
db key
SNOMED CT 702380008
html:p
related-gene-list
Idiopathic pulmonary fibrosis https://ghr.nlm.nih.gov/condition/idiopathic-pulmonary-fibrosis Idiopathic pulmonary fibrosis has an estimated prevalence of 13 to 20 per html:p autosomal dominant ELMOD2 https://ghr.nlm.nih.gov/gene/ELMOD2 cryptogenic fibrosing alveolitis db key 2015-04 2017-12-29
100,000 people worldwide. About 100,000 people are affected in the United related-gene gene-symbol ghr-page idiopathic fibrosing alveolitis, chronic form GTR C1800706
States, and 30,000 to 40,000 new cases are diagnosed each year.Familial MICA https://ghr.nlm.nih.gov/gene/MICA IPF db key
pulmonary fibrosis is less common than the sporadic form of the disease. Only a related-gene gene-symbol ghr-page usual interstitial pneumonia GeneReviews pf
small percentage of cases of idiopathic pulmonary fibrosis appear to run in html:p MUC5B https://ghr.nlm.nih.gov/gene/MUC5B db key
families. related-gene gene-symbol ghr-page ICD-10-CM J84.10
SFTPA1 https://ghr.nlm.nih.gov/gene/SFTPA1 db key
related-gene gene-symbol ghr-page ICD-10-CM J84.11
SFTPA2 https://ghr.nlm.nih.gov/gene/SFTPA2 db key
related-gene gene-symbol ghr-page ICD-10-CM J84.111
SFTPC https://ghr.nlm.nih.gov/gene/SFTPC db key
related-gene gene-symbol ghr-page ICD-10-CM J84.112
html:p TERC https://ghr.nlm.nih.gov/gene/TERC db key
related-gene gene-symbol ghr-page ICD-10-CM J84.113
TERT https://ghr.nlm.nih.gov/gene/TERT db key
ICD-10-CM J84.114
db key
ICD-10-CM J84.115
db key
ICD-10-CM J84.116
db key
html:p ICD-10-CM J84.117
db key
MeSH D054990
db key
OMIM 178500
db key
Orphanet 2032
db key
SNOMED CT 426437004
db key
related-gene-list SNOMED CT 700250006
Imerslund-Gräsbeck syndrome https://ghr.nlm.nih.gov/condition/imerslund-grasbeck-syndrome Imerslund-Gräsbeck syndrome is a rare condition that was first described in html:p autosomal recessive AMN https://ghr.nlm.nih.gov/gene/AMN defect of enterocyte intrinsic factor receptor db key 2014-04 2017-12-29
Finland and Norway; in these regions, the condition is estimated to affect 1 in related-gene gene-symbol ghr-page enterocyte cobalamin malabsorption GTR C4016819
200,000 people. The condition has also been reported in other countries CUBN https://ghr.nlm.nih.gov/gene/CUBN Imerslund-Grasbeck syndrome db key
worldwide; its prevalence in these countries is unknown. juvenile pernicious anemia with proteinuria due to selective intestinal GTR C4016948
malabsorption of vitamin B12 db key
megaloblastic anemia 1 MeSH D000749
db key
OMIM 261100
html:p db key
Orphanet 35858
db key
SNOMED CT 26333003
related-gene-list
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-entero IPEX syndrome is a rare disorder that affects an estimated 1 in 1.6 million html:p X-linked recessive FOXP3 https://ghr.nlm.nih.gov/gene/FOXP3 autoimmunity-immunodeficiency syndrome, X-linked db key 2017-05 2017-12-29
pathy-x-linked-syndrome people. diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea GTR C0342288
diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked db key
enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy GeneReviews ipex
IDDM-secretory diarrhea syndrome db key
immunodeficiency, polyendocrinopathy, and enteropathy, X-linked MeSH D040181
insulin-dependent diabetes mellitus secretory diarrhea syndrome db key
IPEX syndrome OMIM 304790
polyendocrinopathy, immune dysfunction, and diarrhea, X-linked db key
X-linked autoimmunity-allergic dysregulation syndrome Orphanet 37042
XLAAD db key
html:p SNOMED CT 237618001
html:p
html:p
html:p
synonym-list db-key-list
Immune thrombocytopenia https://ghr.nlm.nih.gov/condition/immune-thrombocytopenia The incidence of immune thrombocytopenia is approximately 4 per 100,000 html:p pattern unknown synonym autoimmune thrombocytopenic purpura key 2017-12-29
children and 3 per 100,000 adults. In adults with immune thrombocytopenia, women synonym idiopathic thrombocytopenic purpura db-key C0398650
are affected more often than men.It is likely that this condition is synonym immune thrombocytopenic purpura key
underdiagnosed because those with mild signs and symptoms often do not seek html:p synonym ITP db-key D69.3
medical attention. synonym Werlhof disease key
db-key D016553
key
db-key 188030
key
db-key 3002
key
db-key 234490009
key
2897005
html:p
related-gene-list
Inclusion body myopathy 2 https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2 More than 200 people with inclusion body myopathy 2 have been reported. html:p autosomal recessive GNE https://ghr.nlm.nih.gov/gene/GNE Distal myopathy with rimmed vacuoles db key 2008-12 2017-12-29
Most are of Iranian Jewish descent; the condition affects an estimated 1 in DMRV GTR C1833373
1,500 people in this population. Additionally, at least 15 people in the Hereditary inclusion body myopathy db key
Japanese population have been diagnosed with this disorder. Inclusion body HIBM GTR C1853926
myopathy 2 has also been found in several other ethnic groups worldwide. html:p IBM2 db key
Inclusion body myopathy, autosomal recessive GeneReviews ibm
Inclusion body myopathy, quadriceps-sparing db key
Nonaka myopathy MeSH D018979
QSM db key
Rimmed vacuole myopathy OMIM 605820
db key
Orphanet 602
db key
SNOMED CT 702382000
html:p
related-gene-list
Inclusion body myopathy with early-onset Paget disease and frontotemporal https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-with-early-onset-paget Although the prevalence of IBMPFD is unknown, this condition is rare. It html:p autosomal dominant VCP https://ghr.nlm.nih.gov/gene/VCP IBMPFD db key 2008-12 2017-12-29
dementia -disease-and-frontotemporal-dementia has been identified in about 26 families. Inclusion body myopathy with early-onset Paget disease of bone and/or GTR C1833662
html:p frontotemporal dementia db key
Inclusion body myopathy with Paget disease of bone and/or frontotemporal GeneReviews ibmpfd
dementia db key
Lower motor neuron degeneration with Paget-like bone disease MeSH D010001
Muscular dystrophy, limb-girdle, with Paget disease of bone db key
Pagetoid amyotrophic lateral sclerosis MeSH D018979
Pagetoid neuroskeletal syndrome db key
html:p MeSH D057180
db key
OMIM 167320
db key
Orphanet 52430
html:p db key
SNOMED CT 703544004
html:p
related-gene-list
Incontinentia pigmenti https://ghr.nlm.nih.gov/condition/incontinentia-pigmenti Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 html:p X-linked dominant IKBKG https://ghr.nlm.nih.gov/gene/IKBKG Bloch-Siemens-Sulzberger Syndrome db key 2008-06 2017-12-29
affected individuals have been reported in the scientific literature. Most of Bloch-Siemens syndrome GTR C0021171
these individuals are female, but several dozen males with incontinentia Bloch-Sulzberger Syndrome db key
pigmenti have also been identified. html:p IP GeneReviews i-p
db key
ICD-10-CM Q82.3
db key
MeSH D007184
db key
OMIM 308300
db key
html:p Orphanet 464
db key
SNOMED CT 367520004
related-gene-list
Infantile neuroaxonal dystrophy https://ghr.nlm.nih.gov/condition/infantile-neuroaxonal-dystrophy Infantile neuroaxonal dystrophy is a very rare disorder. Its specific html:p autosomal recessive PLA2G6 https://ghr.nlm.nih.gov/gene/PLA2G6 INAD db key 2012-09 2017-12-29
incidence is unknown. NBIA, PLA2G6-related GTR C0270724
neurodegeneration with brain iron accumulation, PLA2G6-related db key
Seitelberger disease GeneReviews inad
Seitelberger's disease db key
MeSH D019150
db key
OMIM 256600
html:p db key
Orphanet 35069
db key
SNOMED CT 230365004
db key
SNOMED CT 52713000
html:p
html:p
related-gene-list
Infantile-onset ascending hereditary spastic paralysis https://ghr.nlm.nih.gov/condition/infantile-onset-ascending-hereditary-spastic-p Infantile-onset ascending hereditary spastic paralysis is a rare disorder, html:p autosomal recessive ALS2 https://ghr.nlm.nih.gov/gene/ALS2 IAHSP db key 2016-04 2017-12-29
aralysis with at least 30 cases reported in the scientific literature. infantile-onset ascending hereditary spastic paraplegia GTR C1846588
infantile onset ascending spastic paralysis db key
GeneReviews iahsp
db key
MeSH D010264
db key
MeSH D015419
db key
OMIM 607225
db key
Orphanet 293168
db key
SNOMED CT 703543005
html:p
html:p
related-gene-list
Infantile-onset spinocerebellar ataxia https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia More than 20 individuals with IOSCA have been identified in Finland. A few html:p autosomal recessive TWNK https://ghr.nlm.nih.gov/gene/TWNK IOSCA db key 2010-03 2017-12-29
individuals with similar symptoms have been reported elsewhere in Europe. Ohaha syndrome GTR C1849096
ophthalmoplegia, , ataxia, hypacusis, and athetosis db key
GeneReviews sca-io
db key
MeSH D020754
html:p db key
OMIM 271245
db key
html:p Orphanet 1186
db key
SNOMED CT 129609000
html:p
html:p
related-gene-list
Infantile systemic hyalinosis https://ghr.nlm.nih.gov/condition/infantile-systemic-hyalinosis The prevalence of infantile systemic hyalinosis is unknown. Fewer than 20 html:p autosomal recessive ANTXR2 https://ghr.nlm.nih.gov/gene/ANTXR2 inherited systemic hyalinosis db key 2008-12 2017-12-29
people with this disorder have been reported. GTR C2745948
db key
GeneReviews sys-h
db key
MeSH D057770
db key
OMIM 228600
db key
html:p Orphanet 2176
db key
SNOMED CT 238867003
html:p
html:p
related-gene-list
Inherited thyroxine-binding globulin deficiency https://ghr.nlm.nih.gov/condition/inherited-thyroxine-binding-globulin-deficienc The complete form of inherited thyroxine-binding globulin deficiency, html:p X-linked dominant SERPINA7 https://ghr.nlm.nih.gov/gene/SERPINA7 TBG deficiency db key 2009-09 2017-12-29
y TBG-CD, affects about 1 in 15,000 newborns worldwide. The partial form, TBG-PD, GTR C1839141
affects about 1 in 4,000 newborns. These conditions appear to be more common in html:p db key
the Australian Aborigine population and in the Bedouin population of southern MeSH D013959
Israel. db key
OMIM 314200
db key
SNOMED CT 2241003
db key
SNOMED CT 41300001
html:p
html:p
related-gene-list
Intervertebral disc disease https://ghr.nlm.nih.gov/condition/intervertebral-disc-disease Intervertebral disc disease is estimated to affect about 5 percent of the html:p pattern unknown ACAN https://ghr.nlm.nih.gov/gene/ACAN discogenic disease db key 2016-10 2017-12-29
population in developed countries each year. Most individuals experience disc related-gene gene-symbol ghr-page discogenic disorder GTR C0158252
degeneration as they age; however, the severity of the degeneration and the pain ASPN https://ghr.nlm.nih.gov/gene/ASPN disorder of intervertebral disc db key
associated with it varies. related-gene gene-symbol ghr-page IDD ICD-10-CM M50.3
CILP https://ghr.nlm.nih.gov/gene/CILP intervertebral disc degeneration db key
html:p related-gene gene-symbol ghr-page intervertebral disc disorder ICD-10-CM M50.9
COL1A1 https://ghr.nlm.nih.gov/gene/COL1A1 intervertebral disk degeneration db key
related-gene gene-symbol ghr-page ICD-10-CM M51
COL9A2 https://ghr.nlm.nih.gov/gene/COL9A2 db key
related-gene gene-symbol ghr-page ICD-10-CM M51.3
html:p COL9A3 https://ghr.nlm.nih.gov/gene/COL9A3 db key
related-gene gene-symbol ghr-page ICD-10-CM M51.8
COL11A1 https://ghr.nlm.nih.gov/gene/COL11A1 db key
related-gene gene-symbol ghr-page MeSH D055959
IGF1R https://ghr.nlm.nih.gov/gene/IGF1R db key
related-gene gene-symbol ghr-page OMIM 603932
html:p IL1A https://ghr.nlm.nih.gov/gene/IL1A db key
related-gene gene-symbol ghr-page SNOMED CT 77547008
MMP2 https://ghr.nlm.nih.gov/gene/MMP2
related-gene gene-symbol ghr-page
MMP9 https://ghr.nlm.nih.gov/gene/MMP9
related-gene gene-symbol ghr-page
THBS2 https://ghr.nlm.nih.gov/gene/THBS2
related-gene gene-symbol ghr-page
VDR https://ghr.nlm.nih.gov/gene/VDR
related-gene-list
Intestinal pseudo-obstruction https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction The overall prevalence of intestinal pseudo-obstruction is unknown. html:p autosomal dominant ACTG2 https://ghr.nlm.nih.gov/gene/ACTG2 chronic idiopathic intestinal pseudo-obstruction db key 2017-12 2017-12-29
Researchers in Japan have estimated the prevalence of chronic intestinal memo related-gene gene-symbol ghr-page CIIP GTR C1848221
pseudo-obstruction in that country as 9 cases per million people. autosomal recessive FLNA https://ghr.nlm.nih.gov/gene/FLNA CIPO db key
memo related-gene gene-symbol ghr-page congenital short bowel syndrome GTR C1848586
X-linked recessive LMOD1 https://ghr.nlm.nih.gov/gene/LMOD1 enteric neuropathy db key
related-gene gene-symbol ghr-page familial visceral myopathy GTR C1855732
html:p MYH11 https://ghr.nlm.nih.gov/gene/MYH11 familial visceral neuropathy db key
related-gene gene-symbol ghr-page IPO GTR C1855733
MYLK https://ghr.nlm.nih.gov/gene/MYLK paralytic ileus db key
related-chromosome name ghr-page pseudo-obstruction of intestine GTR C1864996
X https://ghr.nlm.nih.gov/chromosome/X pseudointestinal obstruction syndrome db key
pseudoobstructive syndrome GeneReviews actg2-dis
html:p db key
ICD-10-CM K56.0
db key
MeSH D007418
db key
OMIM 243180
db key
html:p OMIM 243185
db key
OMIM 277320
db key
OMIM 300048
db key
OMIM 609629
db key
SNOMED CT 235825006
db key
SNOMED CT 55525008
db key
related-gene-list SNOMED CT 715201005
Intrahepatic cholestasis of pregnancy https://ghr.nlm.nih.gov/condition/intrahepatic-cholestasis-of-pregnancy Intrahepatic cholestasis of pregnancy is estimated to affect 1 percent of html:p autosomal dominant ABCB4 https://ghr.nlm.nih.gov/gene/ABCB4 obstetric cholestasis db key 2015-05 2017-12-29
women of Northern European ancestry. The condition is more common in certain related-gene gene-symbol ghr-page pregnancy-related cholestasis GTR C0268318
populations, such as women of Araucanian Indian ancestry in Chile or women of ABCB11 https://ghr.nlm.nih.gov/gene/ABCB11 recurrent intrahepatic cholestasis of pregnancy db key
Scandinavian ancestry. This condition is found less frequently in other GeneReviews pfic
populations. db key
MeSH D002780
db key
OMIM 147480
db key
html:p Orphanet 69665
db key
SNOMED CT 235888006
html:p
related-gene-list
Intranuclear rod myopathy https://ghr.nlm.nih.gov/condition/intranuclear-rod-myopathy Intranuclear rod myopathy is a rare disorder that has been identified in html:p autosomal dominant ACTA1 https://ghr.nlm.nih.gov/gene/ACTA1 intranuclear nemaline rod myopathy db key 2012-04 2017-12-29
only a small number of individuals. Its exact prevalence is unknown. memo nemaline myopathy with exclusively intranuclear rods GTR C1834336
not inherited db key
MeSH D017696
db key
OMIM 161800
db key
html:p SNOMED CT 129621001
html:p
related-gene-list
Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia https://ghr.nlm.nih.gov/condition/intrauterine-growth-restriction-metaphyseal-dy IMAGe syndrome is very rare, with only about 20 cases reported in the html:p autosomal dominant CDKN1C https://ghr.nlm.nih.gov/gene/CDKN1C IMAGe anomaly db key 2013-04 2017-12-29
congenita, and genital anomalies splasia-adrenal-hypoplasia-congenita-and-genital-anomalies medical literature. The condition has been diagnosed more often in males than in IMAGe association GTR C1846009
females, probably because females do not have associated . IMAGe syndrome db key
GeneReviews image
html:p db key
MeSH D000015
db key
OMIM 614732
db key
Orphanet 85173
db key
SNOMED CT 702384004
html:p
html:p
html:p
inheritance-pattern-list
IRAK-4 deficiency https://ghr.nlm.nih.gov/condition/irak-4-deficiency IRAK-4 deficiency is a very rare condition, although the exact prevalence html:p ar autosomal recessive gene-symbol synonym interleukin-1 receptor-associated kinase 4 deficiency db-key db key 2011-11 2017-12-29
is unknown. At least 49 individuals with this condition have been described in IRAK4 synonym IRAK4 deficiency GTR C1843256
the scientific literature. db-key db key
MeSH D007153
bacteria. Most people with this condition have their first bacterial infection db-key db key
before age 2, and the infections can be life-threatening in infancy and OMIM 607676
childhood. Infections become less frequent with age. db-key db key
html:p Orphanet 70592
db-key db key
SNOMED CT 699869003
related-gene-list
Iron-refractory iron deficiency anemia https://ghr.nlm.nih.gov/condition/iron-refractory-iron-deficiency-anemia Although iron deficiency anemia is relatively common, the prevalence of the html:p autosomal recessive TMPRSS6 https://ghr.nlm.nih.gov/gene/TMPRSS6 anemia, hypochromic microcytic, with defect in iron metabolism db key 2014-07 2017-12-29
iron-refractory form of the disease is unknown. At least 50 cases have been IRIDA GTR C0085576
described in the medical literature. Researchers suspect that iron-refractory IRIDA syndrome db key
iron deficiency anemia is underdiagnosed because affected individuals with very iron-handling disorder, hereditary MeSH D018798
mild symptoms may never come to medical attention. html:p db key
OMIM 206200
db key
Orphanet 209981
db key
SNOMED CT 722005000
related-gene-list
Isobutyryl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/isobutyryl-coa-dehydrogenase-deficiency IBD deficiency is a rare disorder; approximately 22 cases have been html:p autosomal recessive ACAD8 https://ghr.nlm.nih.gov/gene/ACAD8 deficiency of isobutyryl-CoA dehydrogenase db key 2010-06 2017-12-29
reported in the medical literature. IBD deficiency GTR C1969809
isobutyryl-coenzyme A dehydrogenase deficiency db key
MeSH D000592
db key
html:p OMIM 611283
db key
Orphanet 79159
db key
SNOMED CT 445274004
related-gene-list
Isodicentric chromosome 15 syndrome https://ghr.nlm.nih.gov/condition/isodicentric-chromosome-15-syndrome Isodicentric chromosome 15 syndrome occurs in about 1 in 30,000 newborns. html:p not inherited 15 https://ghr.nlm.nih.gov/chromosome/15 duplication/inversion 15q11 db key 2012-09 2017-12-29
idic(15) GeneReviews dup15q
html:p inv dup(15) db key
inverted duplication 15 MeSH D025063
isodicentric chromosome 15 db key
html:p non-distal tetrasomy 15q Orphanet 3306
db key
SNOMED CT 16569009
html:p
html:p
html:p
html:p
related-gene-list
Isolated Duane retraction syndrome https://ghr.nlm.nih.gov/condition/isolated-duane-retraction-syndrome Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people html:p autosomal dominant CHN1 https://ghr.nlm.nih.gov/gene/CHN1 co-contractive retraction syndrome db key 2009-03 2017-12-29
worldwide. This condition accounts for 1 percent to 5 percent of all cases of memo Duane anomaly, isolated GTR C0013261
abnormal eye alignment (strabismus). For unknown reasons, isolated Duane autosomal recessive Duane retraction syndrome db key
syndrome affects females more often than males. Duane syndrome GTR C0751083
Duane's syndrome db key
ocular retraction syndrome GTR C0994516
Stilling-Turk-Duane syndrome db key
html:p GeneReviews duane
db key
ICD-10-CM H50.81
db key
ICD-10-CM H50.811
html:p db key
ICD-10-CM H50.812
db key
MeSH D004370
db key
Orphanet 233
db key
related-gene-list SNOMED CT 60318001
Isolated ectopia lentis https://ghr.nlm.nih.gov/condition/isolated-ectopia-lentis The prevalence of isolated ectopia lentis is unknown. In Denmark, an html:p autosomal dominant ADAMTSL4 https://ghr.nlm.nih.gov/gene/ADAMTSL4 congenital ectopia lentis db key 2015-03 2017-12-29
estimated 6.4 per 100,000 individuals have ectopia lentis, but a large memo related-gene gene-symbol ghr-page ectopia lentis GTR C1851286
proportion of these cases (about 75 percent) are syndromic. autosomal recessive FBN1 https://ghr.nlm.nih.gov/gene/FBN1 lens subluxation db key
subluxation of lens GTR C2673634
db key
GeneReviews adamtsl4-eyes
html:p db key
ICD-10-CM H27.11
db key
ICD-10-CM H27.111
db key
ICD-10-CM H27.112
db key
ICD-10-CM H27.113
html:p db key
ICD-10-CM H27.119
db key
html:p MeSH D004479
db key
OMIM 129600
db key
OMIM 225100
db key
Orphanet 1885
db key
SNOMED CT 65814009
db key
related-gene-list SNOMED CT 74969002
Isolated growth hormone deficiency https://ghr.nlm.nih.gov/condition/isolated-growth-hormone-deficiency The incidence of isolated growth hormone deficiency is estimated to be 1 in html:p autosomal dominant BTK https://ghr.nlm.nih.gov/gene/BTK dwarfism, growth hormone deficiency db key 2012-02 2017-12-29
4,000 to 10,000 individuals worldwide. memo related-gene gene-symbol ghr-page dwarfism, pituitary GTR C0271567
autosomal recessive GH1 https://ghr.nlm.nih.gov/gene/GH1 growth hormone deficiency dwarfism db key
memo related-gene gene-symbol ghr-page isolated GH deficiency GTR C0342573
X-linked recessive GHRHR https://ghr.nlm.nih.gov/gene/GHRHR isolated HGH deficiency db key
isolated human growth hormone deficiency GTR C0472813
html:p isolated somatotropin deficiency db key
isolated somatotropin deficiency disorder GTR C2748571
html:p db key
ICD-10-CM D80.0
db key
ICD-10-CM E23.0
html:p db key
MeSH D004393
db key
OMIM 173100
html:p db key
OMIM 262400
db key
OMIM 307200
db key
OMIM 612781
html:p db key
Orphanet 231662
db key
Orphanet 231671
db key
Orphanet 231679
db key
Orphanet 231692
db key
SNOMED CT 18200000
db key
SNOMED CT 2109003
db key
SNOMED CT 234533006
db key
SNOMED CT 237687003
db key
related-gene-list SNOMED CT 7990002
Isolated hyperchlorhidrosis https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis Isolated hyperchlorhidrosis is a rare condition, although its prevalence is html:p autosomal recessive CA12 https://ghr.nlm.nih.gov/gene/CA12 carbonic anhydrase XII deficiency db key 2014-05 2017-12-29
unknown. The condition has been found mostly in the Bedouin population of GTR CN219251
southern Israel. db key
MeSH D014883
db key
OMIM 143860
db key
SNOMED CT 709413001
html:p
related-gene-list
Isolated hyperCKemia https://ghr.nlm.nih.gov/condition/isolated-hyperckemia The prevalence of isolated hyperCKemia is unknown. Because the condition html:p autosomal dominant CAV3 https://ghr.nlm.nih.gov/gene/CAV3 elevated serum CPK db key 2014-05 2017-12-29
has no symptoms, it is likely that some cases never come to medical attention. elevated serum creatine phosphokinase GTR C0241005
H-CK db key
idiopathic hyperCKemia GeneReviews cav
idiopathic persistent elevation of serum creatine kinase db key
MeSH D009135
db key
OMIM 123320
db key
related-gene-list SNOMED CT 432352001
Isolated lissencephaly sequence https://ghr.nlm.nih.gov/condition/isolated-lissencephaly-sequence ILS affects approximately 1 in 100,000 newborns. html:p autosomal dominant DCX https://ghr.nlm.nih.gov/gene/DCX classical lissencephaly db key 2013-07 2017-12-29
memo related-gene gene-symbol ghr-page ILS GTR C1843916
X-linked dominant PAFAH1B1 https://ghr.nlm.nih.gov/gene/PAFAH1B1 LIS1 db key
related-gene gene-symbol ghr-page lissencephaly type 1 GTR C1848199
TUBA1A https://ghr.nlm.nih.gov/gene/TUBA1A lissencephaly, classic db key
type 1 lissencephaly GTR C1969029
db key
GeneReviews chrom17-lis
db key
GeneReviews dcx
html:p db key
GeneReviews tubulin-ov
db key
ICD-10-CM Q04.3
db key
MeSH D054221
db key
OMIM 300067
db key
html:p OMIM 607432
db key
OMIM 611603
db key
Orphanet 48471
db key
SNOMED CT 253147000
db key
SNOMED CT 715780008
related-gene-list
Isolated Pierre Robin sequence https://ghr.nlm.nih.gov/condition/isolated-pierre-robin-sequence Isolated Pierre Robin sequence affects an estimated 1 in 8,500 to 14,000 html:p autosomal dominant SOX9 https://ghr.nlm.nih.gov/gene/SOX9 glossoptosis, micrognathia, and cleft palate db key 2016-12 2017-12-29
people. Pierre Robin syndrome GTR C0031900
Pierre-Robin syndrome db key
Robin sequence MeSH D010855
Robin syndrome db key
OMIM 261800
db key
html:p Orphanet 718
db key
SNOMED CT 4602007
html:p
html:p
related-gene-list
Isovaleric acidemia https://ghr.nlm.nih.gov/condition/isovaleric-acidemia Isovaleric acidemia is estimated to affect at least 1 in 250,000 people in html:p autosomal recessive IVD https://ghr.nlm.nih.gov/gene/IVD Isovaleric acid-CoA dehydrogenase deficiency db key 2007-04 2017-12-29
the United States. Isovaleryl-CoA dehydrogenase deficiency GTR C0268575
IVA db key
IVD deficiency ICD-10-CM E71.110
db key
MeSH D000592
html:p db key
OMIM 243500
db key
Orphanet 33
html:p db key
SNOMED CT 87827003
html:p
html:p
related-gene-list
Jackson-Weiss syndrome https://ghr.nlm.nih.gov/condition/jackson-weiss-syndrome Jackson-Weiss syndrome is a rare genetic disorder; its incidence is html:p autosomal dominant FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 JWS db key 2017-01 2017-12-29
unknown. GTR C0795998
db key
GeneReviews craniosynostosis
html:p db key
MeSH D003398
db key
html:p OMIM 123150
db key
Orphanet 1531
db key
html:p Orphanet 1540
db key
SNOMED CT 709105005
related-gene-list
Jacobsen syndrome https://ghr.nlm.nih.gov/condition/jacobsen-syndrome The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More html:p not inherited ARHGAP32 https://ghr.nlm.nih.gov/gene/ARHGAP32 11q deletion disorder db key 2015-09 2017-12-29
than 200 affected individuals have been reported. related-gene gene-symbol ghr-page 11q deletion syndrome GTR C0795841
ETS1 https://ghr.nlm.nih.gov/gene/ETS1 11q- deletion syndrome db key
related-gene gene-symbol ghr-page 11q terminal deletion disorder MeSH D054868
html:p FLI1 https://ghr.nlm.nih.gov/gene/FLI1 11q23 deletion disorder db key
related-chromosome name ghr-page Jacobsen thrombocytopenia OMIM 147791
11 https://ghr.nlm.nih.gov/chromosome/11 db key
Orphanet 851
db key
Orphanet 2308
db key
SNOMED CT 4325000
html:p
html:p
html:p
inheritance-pattern-list
JAK3-deficient severe combined immunodeficiency https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficienc JAK3-deficient SCID accounts for an estimated 7 to 14 percent of cases of html:p ar related-gene ghr-page synonym autosomal recessive T-B+NK- SCID db-key db key 2017-08 2017-12-29
y SCID. The prevalence of SCID from all genetic causes combined is approximately 1 https://ghr.nlm.nih.gov/gene/JAK3 synonym autosomal recessive T cell-negative, B cell-positive, NK cell-negative severe GTR C1833275
in 50,000, although it may be higher in certain regions. combined immunodeficiency db-key db key
synonym JAK3 SCID MeSH D016511
-deficient SCID are described as opportunistic because they ordinarily do not synonym T-B+ severe combined immunodeficiency due to JAK3 deficiency db-key db key
cause illness in healthy people. Affected infants typically develop chronic synonym T cell-negative, B cell-positive, NK cell-negative SCID OMIM 600802
diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and db-key db key
skin rashes. Persistent illness also causes affected individuals to grow more Orphanet 35078
html:i -deficient SCID usually live only into early childhood. db-key db key
JAK3 SNOMED CT 718107000
related-gene-list
Jervell and Lange-Nielsen syndrome https://ghr.nlm.nih.gov/condition/jervell-and-lange-nielsen-syndrome Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 html:p autosomal recessive KCNE1 https://ghr.nlm.nih.gov/gene/KCNE1 autosomal recessive long QT syndrome (LQTS) db key 2017-09 2017-12-29
to 6 per 1 million people worldwide. This condition has a higher prevalence in related-gene gene-symbol ghr-page cardio-auditory-syncope syndrome GTR C0022387
Denmark, Sweden, and Norway, where it affects at least 1 in 200,000 people. KCNQ1 https://ghr.nlm.nih.gov/gene/KCNQ1 cardioauditory syndrome of Jervell and Lange-Nielsen db key
deafness, congenital, and functional heart disease GTR C2676723
Jervell-Lange Nielsen syndrome db key
JLNS GTR CN034131
prolonged QT interval in EKG and sudden death db key
surdo-cardiac syndrome GeneReviews jln
db key
ICD-10-CM I45.81
db key
MeSH D029593
db key
OMIM 220400
db key
OMIM 612347
db key
Orphanet 768
db key
Orphanet 90647
db key
related-gene-list SNOMED CT 373905003
Joubert syndrome https://ghr.nlm.nih.gov/condition/joubert-syndrome Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in html:p autosomal recessive AHI1 https://ghr.nlm.nih.gov/gene/AHI1 agenesis of cerebellar vermis db key 2017-07 2017-12-29
100,000 newborns. However, this estimate may be too low because Joubert syndrome memo related-gene gene-symbol ghr-page cerebello-oculo-renal syndrome GTR C0431399
has such a large range of possible features and is likely underdiagnosed. X-linked recessive ARL13B https://ghr.nlm.nih.gov/gene/ARL13B cerebellooculorenal syndrome 1 db key
Particular genetic mutations that cause this condition are more common in html:p related-gene gene-symbol ghr-page CORS GeneReviews joubert
certain ethnic groups, such as Ashkenazi Jewish, French-Canadian, and Hutterite B9D1 https://ghr.nlm.nih.gov/gene/B9D1 familial aplasia of the vermis db key
populations. related-gene gene-symbol ghr-page JBTS MeSH D000015
B9D2 https://ghr.nlm.nih.gov/gene/B9D2 Joubert-Bolthauser syndrome db key
related-gene gene-symbol ghr-page OMIM 213300
C2CD3 https://ghr.nlm.nih.gov/gene/C2CD3 db key
related-gene gene-symbol ghr-page OMIM 300804
html:p C5orf42 https://ghr.nlm.nih.gov/gene/C5orf42 db key
related-gene gene-symbol ghr-page OMIM 608091
CC2D2A https://ghr.nlm.nih.gov/gene/CC2D2A db key
related-gene gene-symbol ghr-page OMIM 608629
CEP41 https://ghr.nlm.nih.gov/gene/CEP41 db key
related-gene gene-symbol ghr-page OMIM 609583
CEP104 https://ghr.nlm.nih.gov/gene/CEP104 db key
related-gene gene-symbol ghr-page OMIM 610188
CEP120 https://ghr.nlm.nih.gov/gene/CEP120 db key
html:p related-gene gene-symbol ghr-page OMIM 610688
CEP290 https://ghr.nlm.nih.gov/gene/CEP290 db key
related-gene gene-symbol ghr-page OMIM 611560
CSPP1 https://ghr.nlm.nih.gov/gene/CSPP1 db key
related-gene gene-symbol ghr-page OMIM 612285
IFT172 https://ghr.nlm.nih.gov/gene/IFT172 db key
related-gene gene-symbol ghr-page OMIM 612291
INPP5E https://ghr.nlm.nih.gov/gene/INPP5E db key
related-gene gene-symbol ghr-page OMIM 614173
KIAA0556 https://ghr.nlm.nih.gov/gene/KIAA0556 db key
related-gene gene-symbol ghr-page OMIM 614424
KIAA0586 https://ghr.nlm.nih.gov/gene/KIAA0586 db key
related-gene gene-symbol ghr-page OMIM 614464
KIF7 https://ghr.nlm.nih.gov/gene/KIF7 db key
related-gene gene-symbol ghr-page OMIM 614465
MKS1 https://ghr.nlm.nih.gov/gene/MKS1 db key
related-gene gene-symbol ghr-page OMIM 614615
NPHP1 https://ghr.nlm.nih.gov/gene/NPHP1 db key
related-gene gene-symbol ghr-page OMIM 614815
OFD1 https://ghr.nlm.nih.gov/gene/OFD1 db key
related-gene gene-symbol ghr-page OMIM 614844
PDE6D https://ghr.nlm.nih.gov/gene/PDE6D db key
related-gene gene-symbol ghr-page OMIM 614970
POC1B https://ghr.nlm.nih.gov/gene/POC1B db key
related-gene gene-symbol ghr-page OMIM 615636
RPGRIP1L https://ghr.nlm.nih.gov/gene/RPGRIP1L db key
related-gene gene-symbol ghr-page OMIM 615665
TCTN1 https://ghr.nlm.nih.gov/gene/TCTN1 db key
related-gene gene-symbol ghr-page OMIM 616490
TCTN2 https://ghr.nlm.nih.gov/gene/TCTN2 db key
related-gene gene-symbol ghr-page OMIM 616654
TCTN3 https://ghr.nlm.nih.gov/gene/TCTN3 db key
related-gene gene-symbol ghr-page OMIM 616781
TMEM67 https://ghr.nlm.nih.gov/gene/TMEM67 db key
related-gene gene-symbol ghr-page OMIM 616784
TMEM107 https://ghr.nlm.nih.gov/gene/TMEM107 db key
related-gene gene-symbol ghr-page OMIM 617120
TMEM138 https://ghr.nlm.nih.gov/gene/TMEM138 db key
related-gene gene-symbol ghr-page OMIM 617121
TMEM216 https://ghr.nlm.nih.gov/gene/TMEM216 db key
related-gene gene-symbol ghr-page Orphanet 475
TMEM231 https://ghr.nlm.nih.gov/gene/TMEM231 db key
related-gene gene-symbol ghr-page SNOMED CT 253175003
TMEM237 https://ghr.nlm.nih.gov/gene/TMEM237
related-gene gene-symbol ghr-page
TTC21B https://ghr.nlm.nih.gov/gene/TTC21B
related-gene gene-symbol ghr-page
ZNF423 https://ghr.nlm.nih.gov/gene/ZNF423
related-gene-list
Junctional epidermolysis bullosa https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa Both types of junctional epidermolysis bullosa are rare, affecting fewer html:p autosomal recessive COL17A1 https://ghr.nlm.nih.gov/gene/COL17A1 Epidermolysis Bullosa, Junctional db key 2009-09 2017-12-29
than 1 per million people in the United States. related-gene gene-symbol ghr-page JEB GTR C0079301
LAMA3 https://ghr.nlm.nih.gov/gene/LAMA3 db key
related-gene gene-symbol ghr-page GTR C0079683
LAMB3 https://ghr.nlm.nih.gov/gene/LAMB3 db key
related-gene gene-symbol ghr-page GTR C0268374
LAMC2 https://ghr.nlm.nih.gov/gene/LAMC2 db key
html:p GeneReviews ebj
db key
ICD-10-CM Q81.8
db key
MeSH D016109
db key
OMIM 226650
db key
OMIM 226700
db key
Orphanet 305
html:p db key
SNOMED CT 33662006
db key
SNOMED CT 399971009
db key
html:p SNOMED CT 400140006
db key
SNOMED CT 79855003
related-gene-list
Juvenile hyaline fibromatosis https://ghr.nlm.nih.gov/condition/juvenile-hyaline-fibromatosis The prevalence of juvenile hyaline fibromatosis is unknown. About 70 people html:p autosomal recessive ANTXR2 https://ghr.nlm.nih.gov/gene/ANTXR2 inherited systemic hyalinosis db key 2008-12 2017-12-29
with this disorder have been reported. juvenile hyalinosis GTR C2745948
molluscum fibrosum db key
Murray syndrome GeneReviews sys-h
Puretic syndrome db key
Systemic hyalinosis MeSH D057770
db key
html:p OMIM 228600
db key
Orphanet 2028
db key
SNOMED CT 238861002
related-gene-list
Juvenile idiopathic arthritis https://ghr.nlm.nih.gov/condition/juvenile-idiopathic-arthritis The incidence of juvenile idiopathic arthritis in North America and Europe html:p pattern unknown HLA-A https://ghr.nlm.nih.gov/gene/HLA-A arthritis, juvenile rheumatoid db key 2015-02 2017-12-29
is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately related-gene gene-symbol ghr-page JIA GTR C1858558
294,000, children in the United States are affected. The most common type of HLA-B https://ghr.nlm.nih.gov/gene/HLA-B JRA db key
juvenile idiopathic arthritis in the United States is oligoarticular juvenile related-gene gene-symbol ghr-page juvenile chronic arthritis ICD-10-CM M08
idiopathic arthritis, which accounts for about half of all cases. For reasons html:p HLA-DPB1 https://ghr.nlm.nih.gov/gene/HLA-DPB1 juvenile RA db key
that are unclear, females seem to be affected with juvenile idiopathic arthritis related-gene gene-symbol ghr-page juvenile rheumatoid arthritis ICD-10-CM M08.0
somewhat more frequently than males. However, in enthesitis-related juvenile HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 systemic juvenile rheumatoid arthritis db key
idiopathic arthritis males are affected more often than females. The incidence html:p related-gene gene-symbol ghr-page ICD-10-CM M08.00
of juvenile idiopathic arthritis varies across different populations and ethnic HLA-DQB1 https://ghr.nlm.nih.gov/gene/HLA-DQB1 db key
groups. related-gene gene-symbol ghr-page ICD-10-CM M08.01
HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 db key
related-gene gene-symbol ghr-page ICD-10-CM M08.02
html:p IL2RA https://ghr.nlm.nih.gov/gene/IL2RA db key
related-gene gene-symbol ghr-page ICD-10-CM M08.2
IL6 https://ghr.nlm.nih.gov/gene/IL6 db key
related-gene gene-symbol ghr-page ICD-10-CM M08.03
MIF https://ghr.nlm.nih.gov/gene/MIF db key
related-gene gene-symbol ghr-page ICD-10-CM M08.3
PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
related-gene gene-symbol ghr-page ICD-10-CM M08.04
html:p SLC11A1 https://ghr.nlm.nih.gov/gene/SLC11A1 db key
related-gene gene-symbol ghr-page ICD-10-CM M08.4
STAT4 https://ghr.nlm.nih.gov/gene/STAT4 db key
related-gene gene-symbol ghr-page ICD-10-CM M08.05
TNF https://ghr.nlm.nih.gov/gene/TNF db key
related-gene gene-symbol ghr-page ICD-10-CM M08.06
html:p TNFAIP3 https://ghr.nlm.nih.gov/gene/TNFAIP3 db key
related-gene gene-symbol ghr-page ICD-10-CM M08.07
TRAF1 https://ghr.nlm.nih.gov/gene/TRAF1 db key
related-gene gene-symbol ghr-page ICD-10-CM M08.08
WISP3 https://ghr.nlm.nih.gov/gene/WISP3 db key
html:p ICD-10-CM M08.8
db key
ICD-10-CM M08.09
db key
ICD-10-CM M08.9
db key
html:p ICD-10-CM M08.011
db key
ICD-10-CM M08.012
db key
ICD-10-CM M08.019
html:p db key
ICD-10-CM M08.20
db key
ICD-10-CM M08.021
db key
ICD-10-CM M08.21
db key
ICD-10-CM M08.022
db key
ICD-10-CM M08.22
db key
ICD-10-CM M08.23
db key
ICD-10-CM M08.24
db key
ICD-10-CM M08.25
db key
ICD-10-CM M08.26
db key
ICD-10-CM M08.27
db key
ICD-10-CM M08.28
db key
ICD-10-CM M08.029
db key
ICD-10-CM M08.29
db key
ICD-10-CM M08.031
db key
ICD-10-CM M08.032
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ICD-10-CM M08.039
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ICD-10-CM M08.40
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ICD-10-CM M08.041
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ICD-10-CM M08.41
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ICD-10-CM M08.042
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ICD-10-CM M08.42
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ICD-10-CM M08.43
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ICD-10-CM M08.44
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ICD-10-CM M08.45
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ICD-10-CM M08.46
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ICD-10-CM M08.47
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ICD-10-CM M08.48
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ICD-10-CM M08.049
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ICD-10-CM M08.051
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ICD-10-CM M08.052
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ICD-10-CM M08.059
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ICD-10-CM M08.061
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ICD-10-CM M08.062
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ICD-10-CM M08.069
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ICD-10-CM M08.071
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ICD-10-CM M08.072
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ICD-10-CM M08.079
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ICD-10-CM M08.80
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ICD-10-CM M08.81
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ICD-10-CM M08.82
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ICD-10-CM M08.83
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ICD-10-CM M08.84
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ICD-10-CM M08.85
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ICD-10-CM M08.86
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ICD-10-CM M08.87
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ICD-10-CM M08.88
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ICD-10-CM M08.89
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ICD-10-CM M08.90
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ICD-10-CM M08.91
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ICD-10-CM M08.92
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ICD-10-CM M08.93
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ICD-10-CM M08.94
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ICD-10-CM M08.95
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ICD-10-CM M08.96
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ICD-10-CM M08.97
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ICD-10-CM M08.98
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ICD-10-CM M08.99
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ICD-10-CM M08.211
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ICD-10-CM M08.212
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ICD-10-CM M08.219
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ICD-10-CM M08.221
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ICD-10-CM M08.222
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ICD-10-CM M08.229
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ICD-10-CM M08.231
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ICD-10-CM M08.232
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ICD-10-CM M08.239
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ICD-10-CM M08.241
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ICD-10-CM M08.242
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ICD-10-CM M08.249
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ICD-10-CM M08.251
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ICD-10-CM M08.252
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ICD-10-CM M08.259
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ICD-10-CM M08.261
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ICD-10-CM M08.262
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ICD-10-CM M08.269
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ICD-10-CM M08.271
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ICD-10-CM M08.272
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ICD-10-CM M08.279
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ICD-10-CM M08.411
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ICD-10-CM M08.412
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ICD-10-CM M08.419
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ICD-10-CM M08.421
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ICD-10-CM M08.422
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ICD-10-CM M08.429
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ICD-10-CM M08.431
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ICD-10-CM M08.432
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ICD-10-CM M08.439
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ICD-10-CM M08.441
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ICD-10-CM M08.442
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ICD-10-CM M08.449
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ICD-10-CM M08.451
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ICD-10-CM M08.452
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ICD-10-CM M08.459
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ICD-10-CM M08.461
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ICD-10-CM M08.462
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ICD-10-CM M08.469
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ICD-10-CM M08.471
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ICD-10-CM M08.472
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ICD-10-CM M08.479
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ICD-10-CM M08.811
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ICD-10-CM M08.812
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ICD-10-CM M08.819
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ICD-10-CM M08.821
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ICD-10-CM M08.822
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ICD-10-CM M08.829
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ICD-10-CM M08.831
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ICD-10-CM M08.832
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ICD-10-CM M08.839
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ICD-10-CM M08.841
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ICD-10-CM M08.842
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ICD-10-CM M08.849
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ICD-10-CM M08.851
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ICD-10-CM M08.852
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ICD-10-CM M08.859
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ICD-10-CM M08.861
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ICD-10-CM M08.862
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ICD-10-CM M08.869
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ICD-10-CM M08.871
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ICD-10-CM M08.872
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ICD-10-CM M08.879
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ICD-10-CM M08.911
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ICD-10-CM M08.912
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ICD-10-CM M08.919
db key
ICD-10-CM M08.921
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ICD-10-CM M08.922
db key
ICD-10-CM M08.929
db key
ICD-10-CM M08.931
db key
ICD-10-CM M08.932
db key
ICD-10-CM M08.939
db key
ICD-10-CM M08.941
db key
ICD-10-CM M08.942
db key
ICD-10-CM M08.949
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ICD-10-CM M08.951
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ICD-10-CM M08.952
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ICD-10-CM M08.959
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ICD-10-CM M08.961
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ICD-10-CM M08.962
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ICD-10-CM M08.969
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ICD-10-CM M08.971
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ICD-10-CM M08.972
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ICD-10-CM M08.979
db key
MeSH D001171
db key
OMIM 604302
db key
Orphanet 92
db key
SNOMED CT 201796004
db key
SNOMED CT 239796000
db key
related-gene-list SNOMED CT 410502007
Juvenile myoclonic https://ghr.nlm.nih.gov/condition/juvenile-myoclonic- Juvenile myoclonic affects an estimated 1 in 1,000 people html:p autosomal dominant CACNB4 https://ghr.nlm.nih.gov/gene/CACNB4 adolescent myoclonic db key 2015-09 2017-12-29
worldwide. Approximately 5 percent of people with have juvenile memo related-gene gene-symbol ghr-page Janz syndrome GTR C0393697
myoclonic . autosomal recessive CLCN2 https://ghr.nlm.nih.gov/gene/CLCN2 petit mal, db key
related-gene gene-symbol ghr-page GTR C1850778
EFHC1 https://ghr.nlm.nih.gov/gene/EFHC1 db key
related-gene gene-symbol ghr-page GTR C2749942
GABRA1 https://ghr.nlm.nih.gov/gene/GABRA1 db key
related-gene gene-symbol ghr-page GTR C2750887
GABRD https://ghr.nlm.nih.gov/gene/GABRD db key
GTR C2751603
db key
GTR C3280332
db key
ICD-10-CM G40.B01
db key
ICD-10-CM G40.B09
db key
ICD-10-CM G40.B11
db key
ICD-10-CM G40.B19
db key
MeSH D020190
db key
OMIM 254770
db key
OMIM 607628
db key
OMIM 607682
db key
OMIM 611136
db key
OMIM 613060
db key
OMIM 614280
db key
related-gene-list SNOMED CT 6204001
Juvenile Paget disease https://ghr.nlm.nih.gov/condition/juvenile-paget-disease Juvenile Paget disease is rare; about 50 affected individuals have been html:p autosomal recessive TNFRSF11B https://ghr.nlm.nih.gov/gene/TNFRSF11B chronic congenital idiopathic hyperphosphatasemia db key 2010-02 2017-12-29
identified worldwide. familial idiopathic hyperphosphatasemia GTR C0268414
html:p familial osteoectasia db key
hyperostosis corticalis deformans juvenilis MeSH D010001
hyperphosphatasemia with bone disease db key
hyperphosphatasia, familial idiopathic OMIM 239000
html:p idiopathic hyperphosphatasia db key
JPD Orphanet 2801
juvenile Paget's disease db key
osteochalasia desmalis familiaris SNOMED CT 9723006
osteoectasia with hyperphosphatasia
related-gene-list
Juvenile polyposis syndrome https://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome Juvenile polyposis syndrome occurs in approximately 1 in 100,000 html:p autosomal dominant BMPR1A https://ghr.nlm.nih.gov/gene/BMPR1A JIP db key 2013-10 2017-12-29
individuals worldwide. related-gene gene-symbol ghr-page JPS GTR C0345893
SMAD4 https://ghr.nlm.nih.gov/gene/SMAD4 juvenile intestinal polyposis db key
GeneReviews jps
db key
ICD-10-CM D12.6
db key
MeSH D044483
db key
OMIM 174900
db key
Orphanet 2929
db key
html:p SNOMED CT 9273005
html:p
html:p
related-gene-list
Juvenile primary lateral sclerosis https://ghr.nlm.nih.gov/condition/juvenile-primary-lateral-sclerosis Juvenile primary lateral sclerosis is a rare disorder, with few reported html:p autosomal recessive ALS2 https://ghr.nlm.nih.gov/gene/ALS2 JPLS db key 2013-07 2017-12-29
cases. related-gene gene-symbol ghr-page juvenile PLS GTR C1853396
ERLIN2 https://ghr.nlm.nih.gov/gene/ERLIN2 PLSJ db key
primary lateral sclerosis, juvenile GeneReviews iahsp
db key
html:p MeSH D016472
db key
OMIM 606353
db key
SNOMED CT 717964007
related-gene-list
Juvenile primary osteoporosis https://ghr.nlm.nih.gov/condition/juvenile-primary-osteoporosis The prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 html:p autosomal dominant LRP5 https://ghr.nlm.nih.gov/gene/LRP5 childhood-onset primary osteoporosis db key 2013-01 2017-12-29
adults over age 50 have osteoporosis, but the condition is uncommon in children. idiopathic juvenile osteoporosis GTR C1866079
Osteoporosis can occur at a young age as a feature of other conditions but db key
rarely occurs without other signs and symptoms (primary osteoporosis). MeSH D010024
db key
SNOMED CT 240156000
related-gene-list
Kabuki syndrome https://ghr.nlm.nih.gov/condition/kabuki-syndrome Kabuki syndrome occurs in approximately 1 in 32,000 newborns. html:p autosomal dominant KDM6A https://ghr.nlm.nih.gov/gene/KDM6A Kabuki make-up syndrome db key 2017-01 2017-12-29
related-gene gene-symbol ghr-page Kabuki makeup syndrome GTR C3275495
KMT2D https://ghr.nlm.nih.gov/gene/KMT2D KMS db key
Niikawa-Kuroki syndrome GTR CN030661
db key
GeneReviews kabuki
db key
html:p MeSH D000015
db key
OMIM 147920
db key
OMIM 300867
html:p db key
Orphanet 2322
db key
SNOMED CT 313426007
html:p
related-gene-list
Kallmann syndrome https://ghr.nlm.nih.gov/condition/kallmann-syndrome Kallmann syndrome occurs more often in males than in females, with an html:p autosomal dominant ANOS1 https://ghr.nlm.nih.gov/gene/ANOS1 anosmic hypogonadism db key 2016-12 2017-12-29
estimated prevalence of 1 in 30,000 males and 1 in 120,000 females. memo related-gene gene-symbol ghr-page anosmic idiopathic hypogonadotropic hypogonadism GTR C0162809
html:p autosomal recessive AXL https://ghr.nlm.nih.gov/gene/AXL hypogonadism with anosmia db key
memo related-gene gene-symbol ghr-page hypogonadotropic hypogonadism and anosmia GTR C1563719
X-linked recessive CCDC141 https://ghr.nlm.nih.gov/gene/CCDC141 hypogonadotropic hypogonadism-anosmia syndrome db key
related-gene gene-symbol ghr-page Kallman's syndrome GTR C1563720
CHD7 https://ghr.nlm.nih.gov/gene/CHD7 db key
related-gene gene-symbol ghr-page GTR C1839911
DUSP6 https://ghr.nlm.nih.gov/gene/DUSP6 db key
related-gene gene-symbol ghr-page GTR C1857720
FEZF1 https://ghr.nlm.nih.gov/gene/FEZF1 db key
related-gene gene-symbol ghr-page GTR C2675188
html:p FGF8 https://ghr.nlm.nih.gov/gene/FGF8 db key
related-gene gene-symbol ghr-page GTR C2675302
FGF17 https://ghr.nlm.nih.gov/gene/FGF17 db key
related-gene gene-symbol ghr-page GTR C2930927
FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 db key
html:p related-gene gene-symbol ghr-page GeneReviews kms
FLRT3 https://ghr.nlm.nih.gov/gene/FLRT3 db key
related-gene gene-symbol ghr-page MeSH D017436
HS6ST1 https://ghr.nlm.nih.gov/gene/HS6ST1 db key
related-gene gene-symbol ghr-page OMIM 147950
IL17RD https://ghr.nlm.nih.gov/gene/IL17RD db key
related-gene gene-symbol ghr-page OMIM 244200
NSMF https://ghr.nlm.nih.gov/gene/NSMF db key
related-gene gene-symbol ghr-page OMIM 308700
PROK2 https://ghr.nlm.nih.gov/gene/PROK2 db key
related-gene gene-symbol ghr-page OMIM 308750
PROKR2 https://ghr.nlm.nih.gov/gene/PROKR2 db key
related-gene gene-symbol ghr-page OMIM 610628
SEMA3A https://ghr.nlm.nih.gov/gene/SEMA3A db key
related-gene gene-symbol ghr-page Orphanet 478
SEMA7A https://ghr.nlm.nih.gov/gene/SEMA7A db key
related-gene gene-symbol ghr-page SNOMED CT 93559003
SOX10 https://ghr.nlm.nih.gov/gene/SOX10
related-gene gene-symbol ghr-page
SPRY4 https://ghr.nlm.nih.gov/gene/SPRY4
related-gene gene-symbol ghr-page
WDR11 https://ghr.nlm.nih.gov/gene/WDR11
related-gene-list
Kaufman oculocerebrofacial syndrome https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome The prevalence of Kaufman oculocerebrofacial syndrome is unknown. At least html:p autosomal recessive UBE3B https://ghr.nlm.nih.gov/gene/UBE3B blepharophimosis-ptosis- disability syndrome db key 2017-01 2017-12-29
14 affected individuals have been described in the medical literature. BPIDS GTR C1855663
KOS db key
html:p oculocerebrofacial syndrome, Kaufman type GeneReviews kos
db key
MeSH D000015
db key
OMIM 244450
html:p db key
Orphanet 2707
db key
SNOMED CT 722056009
html:p
html:p
related-gene-list
Kawasaki disease https://ghr.nlm.nih.gov/condition/kawasaki-disease In the United States and other Western countries, Kawasaki disease occurs html:p pattern unknown ITPKC https://ghr.nlm.nih.gov/gene/ITPKC acute febrile mucocutaneous lymph node syndrome db key 2015-09 2017-12-29
in approximately 1 in 10,000 children under 5 each year. The condition is 10 to Kawasaki syndrome GTR C0026691
20 times more common in East Asia, including Japan, Korea, and Taiwan. KD db key
mucocutaneous lymph node syndrome ICD-10-CM M30.3
db key
MeSH D009080
html:p db key
OMIM 611775
db key
Orphanet 2331
db key
related-gene-list SNOMED CT 75053002
KBG syndrome https://ghr.nlm.nih.gov/condition/kbg-syndrome KBG syndrome is a rare disorder that has been reported in more than 100 html:p autosomal dominant ANKRD11 https://ghr.nlm.nih.gov/gene/ANKRD11 macrodontia, mental retardation, characteristic facies, , and db key 2015-01 2017-12-29
individuals. For unknown reasons, males are affected more often than females. skeletal anomalies GTR C0220687
Doctors think the disorder is underdiagnosed because the signs and symptoms can -characteristic facies-mental retardation-macrodontia-skeletal db key
be mild and may be attributed to other disorders. anomalies syndrome MeSH D000015
html:p , characteristic facies, macrodontia, mental retardation, and db key
skeletal anomalies OMIM 148050
db key
Orphanet 2332
db key
SNOMED CT 711156009
html:p
html:p
html:p
related-gene-list
KCNK9 imprinting syndrome https://ghr.nlm.nih.gov/condition/kcnk9-imprinting-syndrome KCNK9 imprinting syndrome is a rare condition. At least 19 affected html:p ad autosomal dominant KCNK9 synonym db-key db key 2017-06 2017-12-29
individuals have been described in the medical literature. synonym GTR C2676770
synonym db-key db key
synonym GeneReviews kcnk9-is
synonym db-key db key
MeSH D008607
db-key db key
OMIM 612292
db-key db key
html:p Orphanet 166108
html:p
related-gene-list
Kearns-Sayre syndrome https://ghr.nlm.nih.gov/condition/kearns-sayre-syndrome The prevalence of Kearns-Sayre syndrome is approximately 1 to 3 per 100,000 html:p mitochondrial mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna Kearns-Sayre mitochondrial cytopathy db key 2011-12 2017-12-29
individuals. KSS GTR C0022541
db key
GeneReviews kss
db key
ICD-10-CM H49.81
db key
ICD-10-CM H49.811
db key
ICD-10-CM H49.812
db key
ICD-10-CM H49.813
db key
ICD-10-CM H49.819
db key
html:p MeSH D007625
db key
OMIM 530000
db key
html:p Orphanet 480
db key
SNOMED CT 25792000
html:p
related-gene-list
Keratitis-ichthyosis-deafness syndrome https://ghr.nlm.nih.gov/condition/keratitis-ichthyosis-deafness-syndrome KID syndrome is a rare disorder. Its prevalence is unknown. Approximately html:p autosomal dominant GJB2 https://ghr.nlm.nih.gov/gene/GJB2 ichthyosiform erythroderma, corneal involvement, and deafness db key 2012-11 2017-12-29
100 cases have been reported. memo keratitis, ichthyosis, and deafness GTR C1275089
html:p autosomal recessive KID syndrome db key
GTR C1835678
db key
MeSH D007634
db key
OMIM 148210
html:p db key
OMIM 242150
db key
SNOMED CT 239059004
db key
SNOMED CT 403780007
html:p
html:p
related-gene-list
Keratoconus https://ghr.nlm.nih.gov/condition/keratoconus Keratoconus is estimated to affect 1 in 500 to 2,000 individuals worldwide. html:p autosomal dominant CAST https://ghr.nlm.nih.gov/gene/CAST bulging cornea db key 2017-07 2017-12-29
memo related-gene gene-symbol ghr-page conical cornea GTR C0022578
autosomal recessive COL4A3 https://ghr.nlm.nih.gov/gene/COL4A3 KC db key
memo related-gene gene-symbol ghr-page GTR C1835677
not inherited COL4A4 https://ghr.nlm.nih.gov/gene/COL4A4 db key
related-gene gene-symbol ghr-page GTR C3553302
html:p COL5A1 https://ghr.nlm.nih.gov/gene/COL5A1 db key
related-gene gene-symbol ghr-page GTR C3553306
DOCK9 https://ghr.nlm.nih.gov/gene/DOCK9 db key
related-gene gene-symbol ghr-page GTR C3553307
FNDC3B https://ghr.nlm.nih.gov/gene/FNDC3B db key
html:p related-gene gene-symbol ghr-page GTR C3553308
FOXO1 https://ghr.nlm.nih.gov/gene/FOXO1 db key
related-gene gene-symbol ghr-page ICD-10-CM H18.6
HGF https://ghr.nlm.nih.gov/gene/HGF db key
related-gene gene-symbol ghr-page MeSH D007640
html:p IL1A https://ghr.nlm.nih.gov/gene/IL1A db key
related-gene gene-symbol ghr-page OMIM 148300
IL1RN https://ghr.nlm.nih.gov/gene/IL1RN db key
related-gene gene-symbol ghr-page OMIM 608586
LOX https://ghr.nlm.nih.gov/gene/LOX db key
related-gene gene-symbol ghr-page OMIM 608932
MIR184 https://ghr.nlm.nih.gov/gene/MIR184 db key
related-gene gene-symbol ghr-page OMIM 609271
RAB3GAP1 https://ghr.nlm.nih.gov/gene/RAB3GAP1 db key
related-gene gene-symbol ghr-page OMIM 614622
SLC4A11 https://ghr.nlm.nih.gov/gene/SLC4A11 db key
related-gene gene-symbol ghr-page OMIM 614623
TGFBI https://ghr.nlm.nih.gov/gene/TGFBI db key
related-gene gene-symbol ghr-page OMIM 614628
VSX1 https://ghr.nlm.nih.gov/gene/VSX1 db key
related-gene gene-symbol ghr-page OMIM 614629
WNT10A https://ghr.nlm.nih.gov/gene/WNT10A db key
related-gene gene-symbol ghr-page Orphanet 2335
ZEB1 https://ghr.nlm.nih.gov/gene/ZEB1 db key
related-gene gene-symbol ghr-page SNOMED CT 65636009
ZNF469 https://ghr.nlm.nih.gov/gene/ZNF469
related-gene-list
Keratoderma with woolly hair https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair Keratoderma with woolly hair is rare; its prevalence worldwide is html:p autosomal recessive DSC2 https://ghr.nlm.nih.gov/gene/DSC2 KWWH db key 2015-11 2017-12-29
unknown.Type I (Naxos disease) was first described in families from the Greek related-gene gene-symbol ghr-page GTR C1832600
island of Naxos. Since then, affected families have been found in other Greek DSP https://ghr.nlm.nih.gov/gene/DSP db key
islands, Turkey, and the Middle East. This form of the condition may affect up related-gene gene-symbol ghr-page GTR C1864850
to 1 in 1,000 people from the Greek islands.Type II (Carvajal syndrome), type JUP https://ghr.nlm.nih.gov/gene/JUP db key
III, and type IV have each been identified in only a small number of families related-gene gene-symbol ghr-page GTR C4014393
worldwide. KANK2 https://ghr.nlm.nih.gov/gene/KANK2 db key
GTR C4015202
html:p db key
GeneReviews arvd
db key
GeneReviews dcm-ov
db key
MeSH D006201
html:p db key
MeSH D006331
db key
MeSH D007645
db key
OMIM 601214
db key
OMIM 605676
db key
OMIM 610476
db key
OMIM 615821
db key
OMIM 616099
db key
Orphanet 34217
db key
Orphanet 420686
db key
Orphanet 65282
db key
related-gene-list SNOMED CT 52564001
Kindler syndrome https://ghr.nlm.nih.gov/condition/kindler-syndrome Kindler syndrome appears to be rare. About 250 cases have been reported html:p autosomal recessive FERMT1 https://ghr.nlm.nih.gov/gene/FERMT1 congenital bullous poikiloderma db key 2016-06 2017-12-29
worldwide. Kindler's syndrome GTR C0406557
html:p poikiloderma of Kindler db key
GeneReviews kindler
db key
MeSH D004820
db key
OMIM 173650
db key
Orphanet 2908
db key
SNOMED CT 238836000
html:p
html:p
related-gene-list
Kleefstra syndrome https://ghr.nlm.nih.gov/condition/kleefstra-syndrome The prevalence of Kleefstra syndrome is unknown. Only recently has testing html:p autosomal dominant EHMT1 https://ghr.nlm.nih.gov/gene/EHMT1 9q subtelomeric deletion syndrome db key 2016-01 2017-12-29
become available to distinguish it from other disorders with similar features. related-chromosome name ghr-page 9q- syndrome GTR C0795833
9 https://ghr.nlm.nih.gov/chromosome/9 9q34.3 deletion syndrome db key
9q34.3 microdeletion syndrome GeneReviews kleefstra
chromosome 9q deletion syndrome db key
MeSH D025063
db key
OMIM 610253
db key
Orphanet 261494
db key
html:p SNOMED CT 43420005
related-gene-list
Klinefelter syndrome https://ghr.nlm.nih.gov/condition/klinefelter-syndrome Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants html:p not inherited X https://ghr.nlm.nih.gov/chromosome/X Klinefelter's syndrome db key 2013-01 2017-12-29
of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer XXY syndrome GTR C0022735
newborns.Researchers suspect that Klinefelter syndrome is underdiagnosed because html:p XXY trisomy db key
the condition may not be identified in people with mild signs and symptoms. ICD-10-CM Q98.0
Additionally, the features of the condition vary and overlap significantly with db key
those of other conditions. ICD-10-CM Q98.1
db key
ICD-10-CM Q98.4
db key
MeSH D007713
html:p db key
Orphanet 484
db key
SNOMED CT 205700008
db key
html:p SNOMED CT 22053006
db key
SNOMED CT 38847009
db key
related-gene-list SNOMED CT 405769009
Klippel-Feil syndrome https://ghr.nlm.nih.gov/condition/klippel-feil-syndrome Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 html:p autosomal dominant GDF3 https://ghr.nlm.nih.gov/gene/GDF3 cervical fusion syndrome db key 2015-06 2017-12-29
newborns worldwide. Females seem to be affected slightly more often than males. memo related-gene gene-symbol ghr-page cervical vertebral fusion GTR C0022738
autosomal recessive GDF6 https://ghr.nlm.nih.gov/gene/GDF6 cervical vertebral fusion syndrome db key
related-gene gene-symbol ghr-page congenital dystrophia brevicollis GTR C1859209
MEOX1 https://ghr.nlm.nih.gov/gene/MEOX1 dystrophia brevicollis congenita db key
fusion of cervical vertebrae GTR C1861689
KFS db key
Klippel-Feil deformity GTR C3150967
html:p Klippel-Feil sequence db key
vertebral cervical fusion syndrome ICD-10-CM Q76.1
db key
MeSH D007714
db key
OMIM 118100
db key
OMIM 214300
db key
OMIM 613702
db key
Orphanet 2345
db key
SNOMED CT 5601008
html:p
html:p
related-gene-list
Klippel-Trenaunay syndrome https://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 html:p not inherited PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA angio-osteohypertrophy syndrome db key 2016-07 2017-12-29
people worldwide. congenital dysplastic angiopathy GTR C0022739
Klippel-Trenaunay disease db key
KTS MeSH D007715
html:p db key
OMIM 149000
db key
Orphanet 2346
db key
SNOMED CT 721105004
html:p
html:p
html:p
related-gene-list
Kniest dysplasia https://ghr.nlm.nih.gov/condition/kniest-dysplasia Kniest dysplasia is a rare condition; the exact incidence is unknown. html:p autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 Kniest chondrodystrophy db key 2008-07 2017-12-29
Kniest syndrome GTR C0265279
Metatropic dwarfism, type II db key
html:p Metatropic dysplasia type II MeSH D003095
Swiss cheese cartilage dysplasia db key
MeSH D010009
db key
OMIM 156550
db key
Orphanet 485
db key
html:p SNOMED CT 53974002
related-gene-list
Knobloch syndrome https://ghr.nlm.nih.gov/condition/knobloch-syndrome Knobloch syndrome is a rare condition. However, the exact prevalence of the html:p autosomal recessive COL18A1 https://ghr.nlm.nih.gov/gene/COL18A1 retinal detachment and occipital encephalocele db key 2011-06 2017-12-29
condition is unknown. GTR C1849409
html:p db key
MeSH D012164
db key
OMIM 267750
db key
Orphanet 1571
db key
SNOMED CT 703542000
html:p
related-gene-list
Koolen-de Vries syndrome https://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome The prevalence of Koolen-de Vries syndrome is estimated to be 1 in 16,000. html:p autosomal dominant KANSL1 https://ghr.nlm.nih.gov/gene/KANSL1 17q21.31 deletion syndrome db key 2013-03 2017-12-29
However, the underlying genetic cause is often not identified in people with related-chromosome name ghr-page 17q21.31 microdeletion syndrome GTR C1864871
disability, so this condition is likely underdiagnosed. 17 https://ghr.nlm.nih.gov/chromosome/17 chromosome 17q21.31 microdeletion syndrome db key
KANSL1-related disability syndrome GeneReviews mdel17q21_31
KDVS db key
html:p Koolen syndrome MeSH D025063
microdeletion 17q21.31 syndrome db key
monosomy 17q21.31 OMIM 610443
db key
Orphanet 96169
db key
SNOMED CT 717338006
related-gene-list
Krabbe disease https://ghr.nlm.nih.gov/condition/krabbe-disease In the United States, Krabbe disease affects about 1 in 100,000 html:p autosomal recessive GALC https://ghr.nlm.nih.gov/gene/GALC Diffuse Globoid Body Sclerosis db key 2012-08 2017-12-29
individuals. A higher incidence (6 cases per 1,000 people) has been reported in Galactosylceramidase Deficiency Disease GTR C0023521
a few isolated communities in Israel. Galactosylceramide lipidosis db key
galactosylcerebrosidase deficiency GeneReviews krabbe
galactosylsphingosine lipidosis db key
GALC deficiency ICD-10-CM E75.23
GCL db key
GLD MeSH D007965
psychosine lipidosis db key
html:p OMIM 245200
db key
Orphanet 487
db key
SNOMED CT 189979005
db key
SNOMED CT 192782005
html:p db key
SNOMED CT 41142009
related-gene-list
Kuskokwim syndrome https://ghr.nlm.nih.gov/condition/kuskokwim-syndrome Kuskokwim syndrome is extremely rare. It affects a small number of people html:p autosomal recessive FKBP10 https://ghr.nlm.nih.gov/gene/FKBP10 arthrogryposis-like syndrome db key 2013-11 2017-12-29
from the Yup'ik Eskimo population in southwest Alaska. Bruck syndrome 1 GTR C1850168
Kuskokwim disease db key
MeSH D001176
html:p db key
Orphanet 1149
db key
SNOMED CT 702447002
html:p
related-gene-list
L1 syndrome https://ghr.nlm.nih.gov/condition/l1-syndrome The prevalence of L1 syndrome overall is unknown; however, HSAS is html:p X-linked L1CAM https://ghr.nlm.nih.gov/gene/L1CAM adducted thumbs-mental retardation syndrome db key 2017-04 2017-12-29
estimated to affect 1 in 30,000 males. corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic GTR C0265216
paraplegia, hydrocephalus syndrome db key
CRASH syndrome GTR C0795953
mental retardation-clasped thumb syndrome db key
html:p X-linked hydrocephalus syndrome GTR C1839909
db key
GTR CN118845
db key
GeneReviews hsp
db key
GeneReviews l1cam
db key
html:p MeSH D015419
db key
OMIM 303350
db key
html:p OMIM 304100
db key
OMIM 307000
db key
Orphanet 2466
html:p db key
Orphanet 275543
db key
SNOMED CT 302882002
html:p db key
SNOMED CT 716996008
db key
SNOMED CT 71779008
html:p
related-gene-list
Lacrimo-auriculo-dento-digital syndrome https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome LADD syndrome appears to be a rare condition; at least 60 cases have been html:p autosomal dominant FGF10 https://ghr.nlm.nih.gov/gene/FGF10 lacrimoauriculodentodigital syndrome db key 2013-06 2017-12-29
described in the scientific literature. related-gene gene-symbol ghr-page LADD syndrome GTR C0265269
FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 Levy-Hollister syndrome db key
related-gene gene-symbol ghr-page MeSH D019465
FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 db key
html:p OMIM 149730
db key
Orphanet 2363
db key
SNOMED CT 23817003
html:p
html:p
html:p
html:p
related-gene-list
Lactate dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency Lactate dehydrogenase deficiency is a rare disorder. In Japan, this html:p autosomal recessive LDHA https://ghr.nlm.nih.gov/gene/LDHA deficiency of lactate dehydrogenase db key 2012-02 2017-12-29
condition affects 1 in 1 million individuals; the prevalence of lactate related-gene gene-symbol ghr-page lactate dehydrogenase subunit deficiencies GTR C1835592
dehydrogenase deficiency in other countries is unknown. html:p LDHB https://ghr.nlm.nih.gov/gene/LDHB LDH deficiency db key
GTR C2752022
db key
html:p MeSH D002239
db key
OMIM 612933
db key
OMIM 614128
db key
Orphanet 2364
db key
SNOMED CT 124115002
db key
SNOMED CT 124116001
html:p db key
SNOMED CT 124141008
db key
SNOMED CT 237982007
db key
related-gene-list SNOMED CT 55783001
Lactose intolerance https://ghr.nlm.nih.gov/condition/lactose-intolerance Lactose intolerance in infancy resulting from congenital lactase deficiency html:p autosomal dominant LCT https://ghr.nlm.nih.gov/gene/LCT alactasia db key 2010-05 2017-12-29
is a rare disorder. Its incidence is unknown. This condition is most common in memo related-gene gene-symbol ghr-page dairy product intolerance GTR C0268179
Finland, where it affects an estimated 1 in 60,000 newborns.Approximately 65 autosomal recessive MCM6 https://ghr.nlm.nih.gov/gene/MCM6 hypolactasia db key
percent of the human population has a reduced ability to digest lactose after html:p lactose malabsorption GTR C0268181
infancy. Lactose intolerance in adulthood is most prevalent in people of East milk sugar intolerance db key
Asian descent, affecting more than 90 percent of adults in some of these ICD-10-CM E73
communities. Lactose intolerance is also very common in people of West African, db key
Arab, Jewish, Greek, and Italian descent.The prevalence of lactose intolerance ICD-10-CM E73.0
is lowest in populations with a long history of dependence on unfermented milk html:p db key
products as an important food source. For example, only about 5 percent of ICD-10-CM E73.1
people of Northern European descent are lactose intolerant. db key
ICD-10-CM E73.8
db key
html:p ICD-10-CM E73.9
db key
MeSH D007787
db key
OMIM 223000
db key
OMIM 223100
db key
SNOMED CT 267425008
db key
SNOMED CT 38032004
db key
related-gene-list SNOMED CT 5388008
Lafora progressive myoclonus https://ghr.nlm.nih.gov/condition/lafora-progressive-myoclonus- The prevalence of Lafora progressive myoclonus is unknown. html:p autosomal recessive EPM2A https://ghr.nlm.nih.gov/gene/EPM2A , progressive myoclonic, Lafora db key 2016-08 2017-12-29
Although the condition occurs worldwide, it appears to be most common in related-gene gene-symbol ghr-page Lafora body disease GTR C0751783
Mediterranean countries (including Spain, France, and Italy), parts of Central NHLRC1 https://ghr.nlm.nih.gov/gene/NHLRC1 Lafora disease db key
Asia, India, Pakistan, North Africa, and the Middle East. Lafora progressive myoclonic GeneReviews lafora
html:p Lafora type progressive myoclonic db key
myoclonic of Lafora MeSH D020192
progressive myoclonic type 2 db key
progressive myoclonus , Lafora type OMIM 254780
db key
Orphanet 501
html:p db key
SNOMED CT 230425004
html:p
related-gene-list
Laing distal myopathy https://ghr.nlm.nih.gov/condition/laing-distal-myopathy Although Laing distal myopathy is thought to be rare, its prevalence is html:p autosomal dominant MYH7 https://ghr.nlm.nih.gov/gene/MYH7 distal myopathy 1 db key 2016-12 2017-12-29
unknown. Several families with the condition have been identified worldwide. Laing early-onset distal myopathy GTR CN074249
MPD1 db key
GeneReviews mpd1
db key
MeSH D049310
db key
OMIM 160500
db key
Orphanet 59135
html:p db key
SNOMED CT 193230001
inheritance-pattern-list
LAMA2-related muscular dystrophy https://ghr.nlm.nih.gov/condition/lama2-related-muscular-dystrophy The prevalence of early-onset LAMA2-related muscular dystrophy is estimated html:p ar related-gene ghr-page synonym LAMA2 MD db-key db key 2013-09 2017-12-29
at 1 in 30,000 individuals. This condition accounts for between 30 and 40 https://ghr.nlm.nih.gov/gene/LAMA2 synonym laminin alpha 2 deficiency GTR C1263858
percent of total cases of congenital muscular dystrophy, although its synonym laminin alpha-2 deficient muscular dystrophy db-key db key
contribution may be higher or lower than this range in specific populations. synonym MDC1A GTR C1842898
Late-onset LAMA2-related muscular dystrophy is rare; its prevalence is unknown. html:p synonym merosin-deficient muscular dystrophy db-key db key
synonym muscular dystrophy due to LAMA2 deficiency GeneReviews mdef-cmd
db-key db key
MeSH D009136
db-key db key
OMIM 607855
db-key db key
Orphanet 258
db-key db key
SNOMED CT 111503008
html:p
html:p
-related muscular dystrophy sometimes have delayed development of motor skills
such as walking, but generally achieve the ability to walk without assistance.
Over time, they may develop rigidity of the back, joint contractures, scoliosis,
and breathing problems. However, most affected individuals retain the ability
to walk and climb stairs, and life expectancy and intelligence are usually not
html:i -related muscular dystrophy.
LAMA2
related-gene-list
Lamellar ichthyosis https://ghr.nlm.nih.gov/condition/lamellar-ichthyosis Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the html:p autosomal recessive ABCA12 https://ghr.nlm.nih.gov/gene/ABCA12 collodion baby db key 2015-03 2017-12-29
United States. This condition is more common in Norway, where an estimated 1 in related-gene gene-symbol ghr-page collodion baby syndrome GTR C0020758
91,000 individuals are affected. CYP4F22 https://ghr.nlm.nih.gov/gene/CYP4F22 ichthyoses, lamellar db key
related-gene gene-symbol ghr-page ichthyosis, lamellar GTR C1832550
LIPN https://ghr.nlm.nih.gov/gene/LIPN LI db key
related-gene gene-symbol ghr-page GTR C1847849
NIPAL4 https://ghr.nlm.nih.gov/gene/NIPAL4 db key
related-gene gene-symbol ghr-page GTR C1858142
TGM1 https://ghr.nlm.nih.gov/gene/TGM1 db key
GTR C3151377
db key
GeneReviews li-ar
db key
ICD-10-CM Q80.2
db key
MeSH D017490
db key
OMIM 242300
db key
OMIM 601277
db key
OMIM 604777
db key
OMIM 606545
db key
Orphanet 313
db key
SNOMED CT 205550003
db key
SNOMED CT 254163001
db key
related-gene-list SNOMED CT 403777006
Langer mesomelic dysplasia https://ghr.nlm.nih.gov/condition/langer-mesomelic-dysplasia The prevalence of Langer mesomelic dysplasia is unknown, although the html:p autosomal recessive SHOX https://ghr.nlm.nih.gov/gene/SHOX dyschondrosteosis homozygous db key 2012-01 2017-12-29
condition appears to be rare. Several dozen affected individuals have been memo Langer mesomelic dwarfism GTR C0432230
reported in the scientific literature. X-linked recessive LMD db key
mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type MeSH D009139
db key
OMIM 249700
db key
Orphanet 2632
db key
SNOMED CT 38494008
related-gene-list
Langerhans cell histiocytosis https://ghr.nlm.nih.gov/condition/langerhans-cell-histiocytosis Langerhans cell histiocytosis is a rare disorder. Its prevalence is html:p pattern unknown BRAF https://ghr.nlm.nih.gov/gene/BRAF Hashimoto-Pritzger disease db key 2017-10 2017-12-29
estimated at 1 to 2 in 100,000 people. related-gene gene-symbol ghr-page histiocytosis X GTR C0019621
MAP2K1 https://ghr.nlm.nih.gov/gene/MAP2K1 Langerhans cell granulomatosis db key
related-gene gene-symbol ghr-page LCH ICD-10-CM C96.0
MAP3K1 https://ghr.nlm.nih.gov/gene/MAP3K1 db key
ICD-10-CM C96.5
db key
html:p ICD-10-CM C96.6
db key
ICD-10-CM J84.82
db key
html:p MeSH D006646
db key
OMIM 604856
db key
Orphanet 389
db key
SNOMED CT 65399007
html:p
html:p
html:p
html:p
html:p
related-gene-list
Laron syndrome https://ghr.nlm.nih.gov/condition/laron-syndrome Laron syndrome is a rare disorder. About 350 people have been diagnosed html:p autosomal dominant GHR https://ghr.nlm.nih.gov/gene/GHR GH-R deficiency db key 2015-04 2017-12-29
with the condition worldwide. The largest single group of affected individuals memo growth hormone insensitivity syndrome GTR C0271568
(about 100 people) lives in an area of southern Ecuador. autosomal recessive growth hormone receptor defect db key
growth hormone receptor deficiency ICD-10-CM E34.3
Laron dwarfism db key
Laron-type dwarfism MeSH D046150
html:p Laron-type isolated somatotropin defect db key
Laron-type pituitary dwarfism OMIM 262500
Laron-type db key
pituitary dwarfism II Orphanet 633
primary GH resistance db key
primary growth hormone resistance SNOMED CT 38196001
severe GH insensitivity
html:p
related-gene-list
Larsen syndrome https://ghr.nlm.nih.gov/condition/larsen-syndrome Larsen syndrome occurs in approximately 1 in 100,000 newborns. html:p autosomal dominant FLNB https://ghr.nlm.nih.gov/gene/FLNB LRS db key 2011-09 2017-12-29
GTR C0175778
db key
GTR C1835564
db key
GeneReviews flnb-dis
db key
html:p MeSH D010009
db key
OMIM 150250
db key
html:p OMIM 245600
db key
Orphanet 503
db key
SNOMED CT 63387002
related-gene-list
Laryngo-onycho-cutaneous syndrome https://ghr.nlm.nih.gov/condition/laryngo-onycho-cutaneous-syndrome LOC syndrome is a rare disorder that primarily affects families of Punjabi html:p autosomal recessive LAMA3 https://ghr.nlm.nih.gov/gene/LAMA3 JEB-LOC db key 2014-09 2017-12-29
background from India and Pakistan, although the condition has also been laryngoonychocutaneous syndrome GTR C1328355
reported in one family from Iran. LOC syndrome db key
LOCS MeSH D016109
LOGIC syndrome db key
Shabbir syndrome OMIM 245660
db key
html:p Orphanet 2407
db key
SNOMED CT 722675000
html:p
html:p
html:p
related-gene-list
Lateral meningocele syndrome https://ghr.nlm.nih.gov/condition/lateral-meningocele-syndrome Lateral meningocele syndrome is a very rare disorder. Only a small number html:p autosomal dominant NOTCH3 https://ghr.nlm.nih.gov/gene/NOTCH3 Lehman syndrome db key 2016-08 2017-12-29
of cases have been described in the medical literature. LMS GTR C1851710
db key
GeneReviews lms
db key
MeSH D000015
html:p db key
MeSH D008588
db key
OMIM 130720
db key
Orphanet 2789
db key
SNOMED CT 253166000
html:p
html:p
html:p
related-gene-list
Lattice corneal dystrophy type I https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-i Lattice corneal dystrophy type I is one of the most common disorders in a html:p autosomal dominant TGFBI https://ghr.nlm.nih.gov/gene/TGFBI Biber-Haab-Dimmer dystrophy db key 2012-04 2017-12-29
group of conditions that are characterized by protein deposits in the cornea GTR C1690006
(corneal dystrophies); however, it is still a rare condition. The prevalence of db key
lattice corneal dystrophy type I is unknown. ICD-10-CM H18.54
db key
MeSH D003317
db key
html:p OMIM 122200
db key
SNOMED CT 419197009
related-gene-list
Lattice corneal dystrophy type II https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-ii Lattice corneal dystrophy type II is a rare condition; however, the html:p autosomal dominant GSN https://ghr.nlm.nih.gov/gene/GSN amyloid cranial neuropathy with lattice corneal dystrophy db key 2012-04 2017-12-29
prevalence is unknown. While this condition can be found in populations amyloidosis due to mutant gelsolin GTR C1622345
worldwide, it was first described in Finland and is more common there. amyloidosis V db key
amyloidosis, Finnish type ICD-10-CM H18.54
amyloidosis, Meretoja type db key
familial amyloid polyneuropathy type IV MeSH D028226
html:p familial amyloidosis, Finnish type db key
gelsolin-related amyloidosis OMIM 105120
Kymenlaakso syndrome db key
lattice corneal dystrophy, gelsolin type SNOMED CT 419087002
Meretoja syndrome db key
SNOMED CT 419398009
html:p
html:p
related-gene-list
Leber congenital amaurosis https://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis Leber congenital amaurosis occurs in 2 to 3 per 100,000 newborns. It is one html:p autosomal dominant AIPL1 https://ghr.nlm.nih.gov/gene/AIPL1 amaurosis, Leber congenital db key 2010-08 2017-12-29
of the most common causes of blindness in children. memo related-gene gene-symbol ghr-page congenital amaurosis of retinal origin GTR C0339527
autosomal recessive CEP290 https://ghr.nlm.nih.gov/gene/CEP290 congenital retinal blindness db key
related-gene gene-symbol ghr-page CRB GTR C1837873
CRB1 https://ghr.nlm.nih.gov/gene/CRB1 dysgenesis neuroepithelialis retinae db key
html:p related-gene gene-symbol ghr-page hereditary epithelial dysplasia of retina GTR C1840284
CRX https://ghr.nlm.nih.gov/gene/CRX hereditary retinal aplasia db key
related-gene gene-symbol ghr-page heredoretinopathia congenitalis GTR C1854260
GUCY2D https://ghr.nlm.nih.gov/gene/GUCY2D LCA db key
related-gene gene-symbol ghr-page Leber abiotrophy GTR C1857743
IMPDH1 https://ghr.nlm.nih.gov/gene/IMPDH1 Leber congenital tapetoretinal degeneration db key
related-gene gene-symbol ghr-page Leber's amaurosis GTR C1857821
IQCB1 https://ghr.nlm.nih.gov/gene/IQCB1 db key
html:p related-gene gene-symbol ghr-page GTR C1858301
LCA5 https://ghr.nlm.nih.gov/gene/LCA5 db key
related-gene gene-symbol ghr-page GTR C1858386
LRAT https://ghr.nlm.nih.gov/gene/LRAT db key
html:p related-gene gene-symbol ghr-page GTR C1858677
NMNAT1 https://ghr.nlm.nih.gov/gene/NMNAT1 db key
related-gene gene-symbol ghr-page GTR C1859844
RD3 https://ghr.nlm.nih.gov/gene/RD3 db key
html:p related-gene gene-symbol ghr-page GTR C2675186
RDH12 https://ghr.nlm.nih.gov/gene/RDH12 db key
related-gene gene-symbol ghr-page GTR C2750063
RPE65 https://ghr.nlm.nih.gov/gene/RPE65 db key
related-gene gene-symbol ghr-page GTR C2931258
RPGRIP1 https://ghr.nlm.nih.gov/gene/RPGRIP1 db key
related-gene gene-symbol ghr-page GTR C3151192
SPATA7 https://ghr.nlm.nih.gov/gene/SPATA7 db key
related-gene gene-symbol ghr-page GTR C3151202
TULP1 https://ghr.nlm.nih.gov/gene/TULP1 db key
GTR C3151206
db key
GeneReviews lca
db key
MeSH D057130
db key
OMIM 204000
db key
OMIM 204100
db key
OMIM 604232
db key
OMIM 604393
db key
OMIM 604537
db key
OMIM 608553
db key
OMIM 610612
db key
OMIM 611755
db key
OMIM 612712
db key
OMIM 613341
db key
Orphanet 65
db key
related-gene-list SNOMED CT 193413001
Leber hereditary optic neuropathy https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy The prevalence of LHON in most populations is unknown. It affects 1 in html:p mitochondrial MT-ND1 https://ghr.nlm.nih.gov/gene/MT-ND1 hereditary optic neuroretinopathy db key 2013-12 2017-12-29
30,000 to 50,000 people in northeast England and Finland. related-gene gene-symbol ghr-page Leber hereditary optic atrophy GTR C0917796
MT-ND4 https://ghr.nlm.nih.gov/gene/MT-ND4 Leber optic atrophy db key
related-gene gene-symbol ghr-page Leber's hereditary optic neuropathy GeneReviews lhon
html:p MT-ND4L https://ghr.nlm.nih.gov/gene/MT-ND4L Leber's optic atrophy db key
related-gene gene-symbol ghr-page Leber's optic neuropathy GeneReviews mt-overview
MT-ND6 https://ghr.nlm.nih.gov/gene/MT-ND6 LHON db key
related-mitochondrial-dna name ghr-page ICD-10-CM H47.22
mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
MeSH D029242
db key
OMIM 308905
db key
OMIM 535000
html:p db key
Orphanet 104
db key
SNOMED CT 58610003
related-gene-list
Left ventricular noncompaction https://ghr.nlm.nih.gov/condition/left-ventricular-noncompaction Left ventricular noncompaction is estimated to affect 8 to 12 per 1 million html:p autosomal dominant ACTC1 https://ghr.nlm.nih.gov/gene/ACTC1 fetal myocardium db key 2017-06 2017-12-29
individuals per year. However, the condition is likely more common than this memo related-gene gene-symbol ghr-page honeycomb myocardium GTR C1832243
estimate because individuals who do not have any related signs or symptoms may autosomal recessive DTNA https://ghr.nlm.nih.gov/gene/DTNA hypertrabeculation syndrome db key
not come to medical attention. memo related-gene gene-symbol ghr-page isolated noncompaction of the ventricular myocardium GTR C1858725
X-linked recessive HCN4 https://ghr.nlm.nih.gov/gene/HCN4 left ventricular hypertrabeculation db key
related-gene gene-symbol ghr-page left ventricular myocardial noncompaction cardiomyopathy GTR C1960469
LDB3 https://ghr.nlm.nih.gov/gene/LDB3 left ventricular non-compaction db key
html:p related-gene gene-symbol ghr-page LVHT GTR C3554496
LMNA https://ghr.nlm.nih.gov/gene/LMNA non-compaction of the left ventricular myocardium db key
related-gene gene-symbol ghr-page noncompaction cardiomyopathy GTR C3715165
MIB1 https://ghr.nlm.nih.gov/gene/MIB1 spongy myocardium db key
related-gene gene-symbol ghr-page GTR C3809288
MYBPC3 https://ghr.nlm.nih.gov/gene/MYBPC3 db key
related-gene gene-symbol ghr-page MeSH D056830
MYH7 https://ghr.nlm.nih.gov/gene/MYH7 db key
related-gene gene-symbol ghr-page OMIM 601493
PRDM16 https://ghr.nlm.nih.gov/gene/PRDM16 db key
related-gene gene-symbol ghr-page OMIM 601494
SCN5A https://ghr.nlm.nih.gov/gene/SCN5A db key
related-gene gene-symbol ghr-page OMIM 604169
TAZ https://ghr.nlm.nih.gov/gene/TAZ db key
related-gene gene-symbol ghr-page OMIM 609470
TNNT2 https://ghr.nlm.nih.gov/gene/TNNT2 db key
related-gene gene-symbol ghr-page OMIM 611878
TPM1 https://ghr.nlm.nih.gov/gene/TPM1 db key
OMIM 613424
db key
OMIM 613426
db key
OMIM 615092
db key
OMIM 615373
db key
OMIM 615396
db key
Orphanet 54260
db key
related-gene-list SNOMED CT 447935001
Legg-Calvé-Perthes disease https://ghr.nlm.nih.gov/condition/legg-calve-perthes-disease The incidence of Legg-Calvé-Perthes disease varies by population. The html:p autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 Calve-Perthes disease db key 2014-09 2017-12-29
condition is most common in white populations, in which it affects an estimated coxa plana GTR C0023234
1 to 3 in 20,000 children under age 15. LCPD db key
Perthes disease ICD-10-CM M91.1
html:p db key
ICD-10-CM M91.10
db key
ICD-10-CM M91.11
db key
ICD-10-CM M91.12
db key
MeSH D007873
db key
OMIM 150600
db key
Orphanet 2380
db key
related-gene-list SNOMED CT 111255008
Legius syndrome https://ghr.nlm.nih.gov/condition/legius-syndrome The prevalence of Legius syndrome is unknown. Many individuals with this html:p autosomal dominant SPRED1 https://ghr.nlm.nih.gov/gene/SPRED1 neurofibromatosis type 1-like syndrome db key 2011-02 2017-12-29
disorder are likely misdiagnosed because the signs and symptoms of Legius NFLS GTR C1969623
syndrome are similar to those of neurofibromatosis type 1. db key
GeneReviews legius
db key
html:p MeSH D019080
db key
OMIM 611431
db key
SNOMED CT 703541007
html:p
related-gene-list
Leigh syndrome https://ghr.nlm.nih.gov/condition/leigh-syndrome Leigh syndrome affects at least 1 in 40,000 newborns. The condition is more html:p autosomal recessive AIFM1 https://ghr.nlm.nih.gov/gene/AIFM1 infantile subacute necrotizing encephalopathy db key 2016-06 2017-12-29
common in certain populations. For example, the condition occurs in memo related-gene gene-symbol ghr-page juvenile subacute necrotizing encephalopathy GTR C0023264
approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of mitochondrial BCS1L https://ghr.nlm.nih.gov/gene/BCS1L Leigh disease db key
Quebec, Canada and in approximately 1 in 1,700 individuals on the Faroe Islands. memo related-gene gene-symbol ghr-page Leigh's disease GTR C1857355
X-linked recessive BTD https://ghr.nlm.nih.gov/gene/BTD subacute necrotizing encephalomyelopathy db key
related-gene gene-symbol ghr-page GTR CN043625
html:p C12orf65 https://ghr.nlm.nih.gov/gene/C12orf65 db key
related-gene gene-symbol ghr-page GTR CN230159
COX10 https://ghr.nlm.nih.gov/gene/COX10 db key
related-gene gene-symbol ghr-page GeneReviews leigh-nucl-ov
COX15 https://ghr.nlm.nih.gov/gene/COX15 db key
related-gene gene-symbol ghr-page GeneReviews narp
DLAT https://ghr.nlm.nih.gov/gene/DLAT db key
related-gene gene-symbol ghr-page ICD-10-CM G31.82
DLD https://ghr.nlm.nih.gov/gene/DLD db key
html:p related-gene gene-symbol ghr-page MeSH D007888
EARS2 https://ghr.nlm.nih.gov/gene/EARS2 db key
related-gene gene-symbol ghr-page OMIM 161700
ECHS1 https://ghr.nlm.nih.gov/gene/ECHS1 db key
related-gene gene-symbol ghr-page OMIM 220111
ETHE1 https://ghr.nlm.nih.gov/gene/ETHE1 db key
related-gene gene-symbol ghr-page OMIM 256000
FARS2 https://ghr.nlm.nih.gov/gene/FARS2 db key
related-gene gene-symbol ghr-page Orphanet 506
FBXL4 https://ghr.nlm.nih.gov/gene/FBXL4 db key
related-gene gene-symbol ghr-page Orphanet 255210
html:p FOXRED1 https://ghr.nlm.nih.gov/gene/FOXRED1 db key
related-gene gene-symbol ghr-page SNOMED CT 29570005
GFM1 https://ghr.nlm.nih.gov/gene/GFM1
related-gene gene-symbol ghr-page
GFM2 https://ghr.nlm.nih.gov/gene/GFM2
related-gene gene-symbol ghr-page
GTPBP3 https://ghr.nlm.nih.gov/gene/GTPBP3
related-gene gene-symbol ghr-page
HIBCH https://ghr.nlm.nih.gov/gene/HIBCH
related-gene gene-symbol ghr-page
IARS2 https://ghr.nlm.nih.gov/gene/IARS2
related-gene gene-symbol ghr-page
LIAS https://ghr.nlm.nih.gov/gene/LIAS
related-gene gene-symbol ghr-page
LIPT1 https://ghr.nlm.nih.gov/gene/LIPT1
related-gene gene-symbol ghr-page
LRPPRC https://ghr.nlm.nih.gov/gene/LRPPRC
related-gene gene-symbol ghr-page
MT-ATP6 https://ghr.nlm.nih.gov/gene/MT-ATP6
related-gene gene-symbol ghr-page
MT-CO3 https://ghr.nlm.nih.gov/gene/MT-CO3
related-gene gene-symbol ghr-page
MT-ND1 https://ghr.nlm.nih.gov/gene/MT-ND1
related-gene gene-symbol ghr-page
MT-ND2 https://ghr.nlm.nih.gov/gene/MT-ND2
related-gene gene-symbol ghr-page
MT-ND3 https://ghr.nlm.nih.gov/gene/MT-ND3
related-gene gene-symbol ghr-page
MT-ND4 https://ghr.nlm.nih.gov/gene/MT-ND4
related-gene gene-symbol ghr-page
MT-ND5 https://ghr.nlm.nih.gov/gene/MT-ND5
related-gene gene-symbol ghr-page
MT-ND6 https://ghr.nlm.nih.gov/gene/MT-ND6
related-gene gene-symbol ghr-page
MT-TI https://ghr.nlm.nih.gov/gene/MT-TI
related-gene gene-symbol ghr-page
MT-TK https://ghr.nlm.nih.gov/gene/MT-TK
related-gene gene-symbol ghr-page
MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1
related-gene gene-symbol ghr-page
MT-TV https://ghr.nlm.nih.gov/gene/MT-TV
related-gene gene-symbol ghr-page
MT-TW https://ghr.nlm.nih.gov/gene/MT-TW
related-gene gene-symbol ghr-page
MTFMT https://ghr.nlm.nih.gov/gene/MTFMT
related-gene gene-symbol ghr-page
NARS2 https://ghr.nlm.nih.gov/gene/NARS2
related-gene gene-symbol ghr-page
NDUFA1 https://ghr.nlm.nih.gov/gene/NDUFA1
related-gene gene-symbol ghr-page
NDUFA2 https://ghr.nlm.nih.gov/gene/NDUFA2
related-gene gene-symbol ghr-page
NDUFA4 https://ghr.nlm.nih.gov/gene/NDUFA4
related-gene gene-symbol ghr-page
NDUFA9 https://ghr.nlm.nih.gov/gene/NDUFA9
related-gene gene-symbol ghr-page
NDUFA10 https://ghr.nlm.nih.gov/gene/NDUFA10
related-gene gene-symbol ghr-page
NDUFA11 https://ghr.nlm.nih.gov/gene/NDUFA11
related-gene gene-symbol ghr-page
NDUFA12 https://ghr.nlm.nih.gov/gene/NDUFA12
related-gene gene-symbol ghr-page
NDUFAF2 https://ghr.nlm.nih.gov/gene/NDUFAF2
related-gene gene-symbol ghr-page
NDUFAF5 https://ghr.nlm.nih.gov/gene/NDUFAF5
related-gene gene-symbol ghr-page
NDUFAF6 https://ghr.nlm.nih.gov/gene/NDUFAF6
related-gene gene-symbol ghr-page
NDUFS1 https://ghr.nlm.nih.gov/gene/NDUFS1
related-gene gene-symbol ghr-page
NDUFS2 https://ghr.nlm.nih.gov/gene/NDUFS2
related-gene gene-symbol ghr-page
NDUFS3 https://ghr.nlm.nih.gov/gene/NDUFS3
related-gene gene-symbol ghr-page
NDUFS4 https://ghr.nlm.nih.gov/gene/NDUFS4
related-gene gene-symbol ghr-page
NDUFS7 https://ghr.nlm.nih.gov/gene/NDUFS7
related-gene gene-symbol ghr-page
NDUFS8 https://ghr.nlm.nih.gov/gene/NDUFS8
related-gene gene-symbol ghr-page
NDUFV1 https://ghr.nlm.nih.gov/gene/NDUFV1
related-gene gene-symbol ghr-page
NDUFV2 https://ghr.nlm.nih.gov/gene/NDUFV2
related-gene gene-symbol ghr-page
PDHA1 https://ghr.nlm.nih.gov/gene/PDHA1
related-gene gene-symbol ghr-page
PDHB https://ghr.nlm.nih.gov/gene/PDHB
related-gene gene-symbol ghr-page
PDHX https://ghr.nlm.nih.gov/gene/PDHX
related-gene gene-symbol ghr-page
PDSS2 https://ghr.nlm.nih.gov/gene/PDSS2
related-gene gene-symbol ghr-page
PET100 https://ghr.nlm.nih.gov/gene/PET100
related-gene gene-symbol ghr-page
PNPT1 https://ghr.nlm.nih.gov/gene/PNPT1
related-gene gene-symbol ghr-page
POLG https://ghr.nlm.nih.gov/gene/POLG
related-gene gene-symbol ghr-page
SCO2 https://ghr.nlm.nih.gov/gene/SCO2
related-gene gene-symbol ghr-page
SDHA https://ghr.nlm.nih.gov/gene/SDHA
related-gene gene-symbol ghr-page
SDHAF1 https://ghr.nlm.nih.gov/gene/SDHAF1
related-gene gene-symbol ghr-page
SERAC1 https://ghr.nlm.nih.gov/gene/SERAC1
related-gene gene-symbol ghr-page
SLC19A3 https://ghr.nlm.nih.gov/gene/SLC19A3
related-gene gene-symbol ghr-page
SLC25A19 https://ghr.nlm.nih.gov/gene/SLC25A19
related-gene gene-symbol ghr-page
SUCLA2 https://ghr.nlm.nih.gov/gene/SUCLA2
related-gene gene-symbol ghr-page
SUCLG1 https://ghr.nlm.nih.gov/gene/SUCLG1
related-gene gene-symbol ghr-page
SURF1 https://ghr.nlm.nih.gov/gene/SURF1
related-gene gene-symbol ghr-page
TACO1 https://ghr.nlm.nih.gov/gene/TACO1
related-gene gene-symbol ghr-page
TPK1 https://ghr.nlm.nih.gov/gene/TPK1
related-gene gene-symbol ghr-page
TRMU https://ghr.nlm.nih.gov/gene/TRMU
related-gene gene-symbol ghr-page
TSFM https://ghr.nlm.nih.gov/gene/TSFM
related-gene gene-symbol ghr-page
TTC19 https://ghr.nlm.nih.gov/gene/TTC19
related-gene gene-symbol ghr-page
UQCRQ https://ghr.nlm.nih.gov/gene/UQCRQ
related-mitochondrial-dna name ghr-page
mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna
synonym-list db-key-list
Lennox-Gastaut syndrome https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome Lennox-Gastaut syndrome affects an estimated 1 in 50,000 to 1 in 100,000 html:p pattern unknown synonym LGS key 2017-12-29
children. This condition accounts for about 4 percent of all cases of childhood db-key C1853372
. For unknown reasons, it appears to be more common in males than in html:p key
females. db-key G40.811
key
db-key G40.812
key
db-key G40.813
key
db-key G40.814
key
html:p db-key D065768
key
db-key 606369
key
db-key 2382
html:p key
230418006
html:p
related-gene-list
Lenz microphthalmia syndrome https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome Lenz microphthalmia syndrome is a very rare condition; its incidence is html:p X-linked recessive BCOR https://ghr.nlm.nih.gov/gene/BCOR Lenz dysmorphogenic syndrome db key 2008-05 2017-12-29
unknown. It has been identified in only a few families worldwide. Lenz dysplasia GTR C0796016
Lenz syndrome db key
html:p MAA GeneReviews lenz
MCOPS1 db key
microphthalmia or anophthalmos with associated anomalies MeSH D000853
microphthalmia, syndromic 1 db key
MeSH D008850
db key
MeSH D015785
html:p db key
OMIM 309800
db key
Orphanet 568
db key
related-gene-list SNOMED CT 438504004
Leptin receptor deficiency https://ghr.nlm.nih.gov/condition/leptin-receptor-deficiency Leptin receptor deficiency is a rare cause of obesity. Its prevalence is html:p autosomal recessive LEPR https://ghr.nlm.nih.gov/gene/LEPR congenital deficiency of the leptin receptor db key 2016-07 2017-12-29
unknown. leptin receptor-related monogenic obesity GTR C3554225
obesity due to leptin receptor gene deficiency db key
obesity, morbid, due to leptin receptor deficiency MeSH D009767
obesity, morbid, nonsyndromic 2 db key
OMIM 614963
html:p db key
Orphanet 179494
db key
SNOMED CT 238136002
related-gene-list
Léri-Weill dyschondrosteosis https://ghr.nlm.nih.gov/condition/leri-weill-dyschondrosteosis The prevalence of Léri-Weill dyschondrosteosis is unknown. It is diagnosed html:p autosomal codominant SHOX https://ghr.nlm.nih.gov/gene/SHOX DCO db key 2012-01 2017-12-29
more often in females than in males. memo dyschondrosteosis GTR C0265309
X-linked dominant Leri-Weill dyschondrosteosis db key
LWD GeneReviews lwd
db key
MeSH D009139
db key
OMIM 127300
db key
Orphanet 240
html:p db key
SNOMED CT 17818006
related-gene-list
Lesch-Nyhan syndrome https://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 html:p X-linked recessive HPRT1 https://ghr.nlm.nih.gov/gene/HPRT1 choreoathetosis self-mutilation syndrome db key 2013-02 2017-12-29
individuals. This condition occurs with a similar frequency in all populations. complete HPRT deficiency GTR C0023374
complete hypoxanthine-guanine phosphoribosyltransferase deficiency db key
deficiency of guanine phosphoribosyltransferase GeneReviews lns
deficiency of hypoxanthine phosphoribosyltransferase db key
HGPRT deficiency ICD-10-CM E79.1
hypoxanthine guanine phosphoribosyltransferase deficiency db key
html:p hypoxanthine phosphoribosyltransferase deficiency MeSH D007926
juvenile gout, choreoathetosis, mental retardation syndrome db key
juvenile hyperuricemia syndrome OMIM 300322
Lesch-Nyhan disease db key
LND OMIM 300323
LNS db key
primary hyperuricemia syndrome Orphanet 510
total HPRT deficiency db key
total hypoxanthine-guanine phosphoribosyl transferase deficiency SNOMED CT 10406007
X-linked hyperuricemia db key
X-linked primary hyperuricemia SNOMED CT 124275001
related-gene-list X-linked uric aciduria enzyme defect
Leukocyte adhesion deficiency type 1 https://ghr.nlm.nih.gov/condition/leukocyte-adhesion-deficiency-type-1 Leukocyte adhesion deficiency type 1 is estimated to occur in 1 per million html:p autosomal recessive ITGB2 https://ghr.nlm.nih.gov/gene/ITGB2 LAD1 db key 2014-04 2017-12-29
people worldwide. At least 300 cases of this condition have been reported in leucocyte adhesion deficiency type 1 GTR C0398738
the scientific literature. leukocyte adhesion molecule deficiency type 1 db key
MeSH D018370
db key
OMIM 116920
html:p db key
Orphanet 99842
db key
SNOMED CT 234582006
html:p
html:p
related-gene-list
Leukoencephalopathy with brainstem and spinal cord involvement and lactate https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-brainstem-and-spinal- LBSL is a rare condition. Its exact prevalence is not known. html:p autosomal recessive DARS2 https://ghr.nlm.nih.gov/gene/DARS2 LBSL db key 2011-08 2017-12-29
elevation cord-involvement-and-lactate-elevation mitochondrial aspartyl-tRNA synthetase deficiency GTR C1970180
db key
GeneReviews lbsl
db key
html:p MeSH D056784
db key
OMIM 611105
db key
Orphanet 137898
db key
SNOMED CT 703537008
html:p
html:p
related-gene-list
Leukoencephalopathy with thalamus and brainstem involvement and high lactate https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-thalamus-and-brainste LTBL is a rare condition. While its prevalence is unknown, at least 19 html:p autosomal recessive EARS2 https://ghr.nlm.nih.gov/gene/EARS2 combined oxidative phosphorylation deficiency 12 db key 2016-09 2017-12-29
m-involvement-and-high-lactate cases have been described in the medical literature. COXPD12 GTR C3554079
LTBL db key
GeneReviews leukodys-ov
db key
MeSH D056784
html:p db key
OMIM 614924
html:p
html:p
related-gene-list
Leukoencephalopathy with vanishing white matter https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-vanishing-white-matte The prevalence of leukoencephalopathy with vanishing white matter is html:p autosomal recessive EIF2B1 https://ghr.nlm.nih.gov/gene/EIF2B1 CACH syndrome db key 2013-05 2017-12-29
r unknown. Although it is a rare disorder, it is believed to be one of the most related-gene gene-symbol ghr-page childhood ataxia with central nervous system hypomyelination GTR C1858991
common inherited diseases that affect the white matter. EIF2B2 https://ghr.nlm.nih.gov/gene/EIF2B2 Cree leukoencephalopathy db key
related-gene gene-symbol ghr-page myelinosis centralis diffusa GeneReviews cach
EIF2B3 https://ghr.nlm.nih.gov/gene/EIF2B3 vanishing white matter disease db key
html:p related-gene gene-symbol ghr-page vanishing white matter leukodystrophy MeSH D020279
EIF2B4 https://ghr.nlm.nih.gov/gene/EIF2B4 db key
related-gene gene-symbol ghr-page MeSH D056784
EIF2B5 https://ghr.nlm.nih.gov/gene/EIF2B5 db key
OMIM 603896
db key
Orphanet 135
db key
SNOMED CT 447351004
html:p
html:p
related-gene-list
Leydig cell hypoplasia https://ghr.nlm.nih.gov/condition/leydig-cell-hypoplasia Leydig cell hypoplasia is a rare disorder; its prevalence is unknown. html:p autosomal recessive LHCGR https://ghr.nlm.nih.gov/gene/LHCGR 46,XY disorder of sex development due to LH defects db key 2010-04 2017-12-29
LCH GTR C0266432
Leydig cell agenesis db key
LH resistance due to LH receptor deactivation MeSH D058490
html:p male hypergonadotropic hypogonadism due to LHCGR defect db key
OMIM 238320
db key
Orphanet 755
db key
SNOMED CT 56212008
html:p
related-gene-list
Li-Fraumeni syndrome https://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of html:p autosomal dominant CHEK2 https://ghr.nlm.nih.gov/gene/CHEK2 LFS db key 2007-01 2017-12-29
Li-Fraumeni syndrome patients suggests that about 400 people from 64 families related-gene gene-symbol ghr-page Sarcoma family syndrome of Li and Fraumeni GTR C0085390
have this disorder. html:p TP53 https://ghr.nlm.nih.gov/gene/TP53 Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome db key
SBLA syndrome GTR C1835398
db key
GTR C1836482
db key
GeneReviews li-fraumeni
db key
ICD-10-CM Z15.01
html:p db key
MeSH D016864
db key
OMIM 151623
db key
OMIM 609265
db key
Orphanet 524
db key
related-gene-list SNOMED CT 428850001
Liddle syndrome https://ghr.nlm.nih.gov/condition/liddle-syndrome Liddle syndrome is a rare condition, although its prevalence is unknown. html:p autosomal dominant SCNN1B https://ghr.nlm.nih.gov/gene/SCNN1B pseudoaldosteronism db key 2013-03 2017-12-29
The condition has been found in populations worldwide. related-gene gene-symbol ghr-page pseudoprimary hyperaldosteronism GTR C0221043
SCNN1G https://ghr.nlm.nih.gov/gene/SCNN1G db key
MeSH D056929
db key
OMIM 177200
html:p db key
Orphanet 526
db key
SNOMED CT 707747007
related-gene-list
Liebenberg syndrome https://ghr.nlm.nih.gov/condition/liebenberg-syndrome Liebenberg syndrome is a rare condition. Fewer than 10 affected families html:p autosomal dominant PITX1 https://ghr.nlm.nih.gov/gene/PITX1 brachydactyly-elbow wrist dysplasia syndrome db key 2016-09 2017-12-29
have been described in the medical literature. brachydactyly with joint dysplasia GTR C1861313
carpal synostosis with dysplastic elbow joints and brachydactyly db key
MeSH D038062
db key
OMIM 186550
db key
Orphanet 1275
html:p
related-gene-list
Limb-girdle muscular dystrophy https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy It is difficult to determine the prevalence of limb-girdle muscular html:p autosomal dominant ANO5 https://ghr.nlm.nih.gov/gene/ANO5 LGMD db key 2014-12 2017-12-29
dystrophy because its features vary and overlap with those of other muscle memo related-gene gene-symbol ghr-page limb-girdle syndrome GTR C0686353
disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 autosomal recessive CAPN3 https://ghr.nlm.nih.gov/gene/CAPN3 myopathic limb-girdle syndrome db key
individuals. related-gene gene-symbol ghr-page GeneReviews cav
html:p CAV3 https://ghr.nlm.nih.gov/gene/CAV3 db key
related-gene gene-symbol ghr-page GeneReviews lgmd-overview
DNAJB6 https://ghr.nlm.nih.gov/gene/DNAJB6 db key
related-gene gene-symbol ghr-page GeneReviews lgmd2a
html:p DYSF https://ghr.nlm.nih.gov/gene/DYSF db key
related-gene gene-symbol ghr-page GeneReviews miyoshi
FKRP https://ghr.nlm.nih.gov/gene/FKRP db key
related-gene gene-symbol ghr-page MeSH D049288
FKTN https://ghr.nlm.nih.gov/gene/FKTN db key
related-gene gene-symbol ghr-page OMIM 159000
html:p HNRNPDL https://ghr.nlm.nih.gov/gene/HNRNPDL db key
related-gene gene-symbol ghr-page OMIM 159001
ISPD https://ghr.nlm.nih.gov/gene/ISPD db key
related-gene gene-symbol ghr-page OMIM 253600
LMNA https://ghr.nlm.nih.gov/gene/LMNA db key
related-gene gene-symbol ghr-page OMIM 253601
MYOT https://ghr.nlm.nih.gov/gene/MYOT db key
related-gene gene-symbol ghr-page OMIM 253700
html:p POMGNT1 https://ghr.nlm.nih.gov/gene/POMGNT1 db key
related-gene gene-symbol ghr-page OMIM 254110
POMT1 https://ghr.nlm.nih.gov/gene/POMT1 db key
related-gene gene-symbol ghr-page OMIM 601287
POMT2 https://ghr.nlm.nih.gov/gene/POMT2 db key
related-gene gene-symbol ghr-page OMIM 601954
html:p SGCA https://ghr.nlm.nih.gov/gene/SGCA db key
related-gene gene-symbol ghr-page OMIM 603511
SGCB https://ghr.nlm.nih.gov/gene/SGCB db key
related-gene gene-symbol ghr-page OMIM 604286
SGCD https://ghr.nlm.nih.gov/gene/SGCD db key
related-gene gene-symbol ghr-page OMIM 607155
SGCG https://ghr.nlm.nih.gov/gene/SGCG db key
related-gene gene-symbol ghr-page OMIM 607801
TCAP https://ghr.nlm.nih.gov/gene/TCAP db key
related-gene gene-symbol ghr-page OMIM 608099
TNPO3 https://ghr.nlm.nih.gov/gene/TNPO3 db key
related-gene gene-symbol ghr-page OMIM 608423
TRAPPC11 https://ghr.nlm.nih.gov/gene/TRAPPC11 db key
related-gene gene-symbol ghr-page OMIM 608807
TRIM32 https://ghr.nlm.nih.gov/gene/TRIM32 db key
related-gene gene-symbol ghr-page OMIM 609115
TTN https://ghr.nlm.nih.gov/gene/TTN db key
OMIM 609308
db key
OMIM 611307
db key
OMIM 611588
db key
OMIM 613157
db key
OMIM 613158
db key
OMIM 613530
db key
Orphanet 263
db key
SNOMED CT 240056002
db key
SNOMED CT 240064008
db key
related-gene-list SNOMED CT 93153005
Lipoid proteinosis https://ghr.nlm.nih.gov/condition/lipoid-proteinosis Lipoid proteinosis is thought to be a rare condition; fewer than 500 cases html:p autosomal recessive ECM1 https://ghr.nlm.nih.gov/gene/ECM1 hyalinosis cutis et mucosae db key 2016-07 2017-12-29
have been described in the scientific literature. This condition occurs more lipid proteinosis GTR C0023795
frequently in certain areas of the world, including Turkey, Iran, and the lipoglycoproteinosis db key
Northern Cape province of South Africa. lipoid proteinosis of Urbach and Wiethe GeneReviews lipoid-p
lipoidosis cutis et mucosae db key
html:p lipoidproteinosis MeSH D008065
lipoproteinosis db key
Urbach-Wiethe disease OMIM 247100
Urbach-Wiethe lipoid proteinosis db key
Urbach-Wiethe syndrome Orphanet 530
db key
SNOMED CT 38692000
html:p
html:p
html:p
html:p
related-gene-list
Lissencephaly with cerebellar hypoplasia https://ghr.nlm.nih.gov/condition/lissencephaly-with-cerebellar-hypoplasia LCH is a rare condition, although its prevalence is unknown. html:p autosomal dominant RELN https://ghr.nlm.nih.gov/gene/RELN LCH db key 2013-08 2017-12-29
memo related-gene gene-symbol ghr-page LIS2 GTR C0796089
autosomal recessive TUBA1A https://ghr.nlm.nih.gov/gene/TUBA1A LIS3 db key
lissencephaly 2 GTR C1969029
lissencephaly 3 db key
lissencephaly syndrome, Norman-Roberts type ICD-10-CM Q04.3
Norman-Roberts syndrome db key
html:p MeSH D054221
db key
OMIM 257320
db key
OMIM 611603
db key
Orphanet 89844
db key
SNOMED CT 715817007
db key
related-gene-list SNOMED CT 717977003
Loeys-Dietz syndrome https://ghr.nlm.nih.gov/condition/loeys-dietz-syndrome The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome html:p autosomal dominant SMAD3 https://ghr.nlm.nih.gov/gene/SMAD3 LDS db key 2017-03 2017-12-29
types I and II appear to be the most common forms. related-gene gene-symbol ghr-page Loeys-Dietz aortic aneurysm syndrome GTR C2674876
TGFB2 https://ghr.nlm.nih.gov/gene/TGFB2 db key
html:p related-gene gene-symbol ghr-page GTR C2697932
TGFB3 https://ghr.nlm.nih.gov/gene/TGFB3 db key
related-gene gene-symbol ghr-page GTR C2697933
TGFBR1 https://ghr.nlm.nih.gov/gene/TGFBR1 db key
html:p related-gene gene-symbol ghr-page GTR C3151087
TGFBR2 https://ghr.nlm.nih.gov/gene/TGFBR2 db key
GTR C3553762
db key
GTR C3810012
db key
GeneReviews loeys-dietz
html:p db key
MeSH D055947
db key
OMIM 609192
db key
OMIM 610168
db key
OMIM 613795
db key
OMIM 614816
db key
OMIM 615582
db key
html:p Orphanet 60030
db key
SNOMED CT 446263001
html:p
related-gene-list
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-def The incidence of LCHAD deficiency is unknown. One estimate, based on a html:p autosomal recessive HADHA https://ghr.nlm.nih.gov/gene/HADHA 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency db key 2017-05 2017-12-29
iciency Finnish population, indicates that 1 in 62,000 pregnancies is affected by this LCHAD deficiency GTR CN074230
disorder. In the United States, the incidence is probably much lower. long-chain 3-hydroxy acyl CoA dehydrogenase deficiency db key
html:p long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency MeSH D008052
long-chain 3-OH acyl-CoA dehydrogenase deficiency db key
trifunctional protein deficiency, type 1 OMIM 609016
db key
Orphanet 5
db key
SNOMED CT 307127004
html:p
related-gene-list
Lowe syndrome https://ghr.nlm.nih.gov/condition/lowe-syndrome Lowe syndrome is an uncommon condition. It has an estimated prevalence of html:p X-linked recessive OCRL https://ghr.nlm.nih.gov/gene/OCRL cerebrooculorenal syndrome db key 2013-11 2017-12-29
1 in 500,000 people. Lowe oculocerebrorenal syndrome GTR C0028860
html:p oculocerebrorenal syndrome db key
oculocerebrorenal syndrome of Lowe GeneReviews lowe
phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency db key
ICD-10-CM E72.03
html:p db key
MeSH D009800
db key
OMIM 309000
db key
Orphanet 534
html:p db key
SNOMED CT 79385002
related-gene-list
Lujan syndrome https://ghr.nlm.nih.gov/condition/lujan-syndrome Lujan syndrome appears to be an uncommon condition, but its prevalence is html:p X-linked recessive MED12 https://ghr.nlm.nih.gov/gene/MED12 LFS db key 2012-12 2017-12-29
unknown. Lujan-Fryns syndrome GTR C0796022
X-linked deficit with marfanoid habitus db key
html:p X-linked mental retardation with marfanoid habitus GeneReviews fg
XLMR with marfanoid features db key
MeSH D038901
db key
OMIM 309520
db key
html:p Orphanet 776
db key
SNOMED CT 422437002
html:p
related-gene-list
Lung cancer https://ghr.nlm.nih.gov/condition/lung-cancer In the United States, it is estimated that more than 221,000 people develop html:p autosomal dominant ALK https://ghr.nlm.nih.gov/gene/ALK cancer of bronchus db key 2015-10 2017-12-29
lung cancer each year. An estimated 72 to 80 percent of lung cancer cases occur memo related-gene gene-symbol ghr-page cancer of the lung GTR C0007131
in tobacco smokers.Approximately 6.6 percent of individuals will develop lung not inherited BRAF https://ghr.nlm.nih.gov/gene/BRAF lung malignancies db key
cancer during their lifetime. It is the leading cause of cancer deaths, related-gene gene-symbol ghr-page lung malignant tumors GTR C0684249
accounting for an estimated 27 percent of all cancer deaths in the United DDR2 https://ghr.nlm.nih.gov/gene/DDR2 lung neoplasms db key
States. related-gene gene-symbol ghr-page malignant lung tumor ICD-10-CM C34
EGFR https://ghr.nlm.nih.gov/gene/EGFR malignant neoplasm of lung db key
related-gene gene-symbol ghr-page malignant tumor of lung ICD-10-CM C34.0
html:p ERBB2 https://ghr.nlm.nih.gov/gene/ERBB2 pulmonary cancer db key
related-gene gene-symbol ghr-page pulmonary carcinoma ICD-10-CM C34.00
KRAS https://ghr.nlm.nih.gov/gene/KRAS pulmonary neoplasms db key
related-gene gene-symbol ghr-page respiratory carcinoma ICD-10-CM C34.01
html:p MAP2K1 https://ghr.nlm.nih.gov/gene/MAP2K1 db key
related-gene gene-symbol ghr-page ICD-10-CM C34.1
NRAS https://ghr.nlm.nih.gov/gene/NRAS db key
related-gene gene-symbol ghr-page ICD-10-CM C34.02
PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA db key
related-gene gene-symbol ghr-page ICD-10-CM C34.2
html:p PTEN https://ghr.nlm.nih.gov/gene/PTEN db key
related-gene gene-symbol ghr-page ICD-10-CM C34.3
RET https://ghr.nlm.nih.gov/gene/RET db key
related-gene gene-symbol ghr-page ICD-10-CM C34.9
RIT1 https://ghr.nlm.nih.gov/gene/RIT1 db key
related-gene gene-symbol ghr-page ICD-10-CM C34.10
ROS1 https://ghr.nlm.nih.gov/gene/ROS1 db key
ICD-10-CM C34.11
db key
ICD-10-CM C34.12
db key
ICD-10-CM C34.30
db key
ICD-10-CM C34.31
db key
ICD-10-CM C34.32
db key
ICD-10-CM C34.90
db key
ICD-10-CM C34.91
db key
ICD-10-CM C34.92
db key
MeSH D002289
db key
MeSH D008175
db key
MeSH D055752
db key
OMIM 211980
db key
Orphanet 70573
db key
related-gene-list SNOMED CT 363358000
Lymphangioleiomyomatosis https://ghr.nlm.nih.gov/condition/lymphangioleiomyomatosis LAM occurs in approximately 30 percent of women with tuberous sclerosis html:p not inherited TSC1 https://ghr.nlm.nih.gov/gene/TSC1 LAM db key 2017-03 2017-12-29
complex. Sporadic LAM, which occurs without tuberous sclerosis complex, is related-gene gene-symbol ghr-page lymphangiomyomatosis GTR C0751674
estimated to affect 3.3 to 7.4 per million women worldwide. This condition may TSC2 https://ghr.nlm.nih.gov/gene/TSC2 db key
be underdiagnosed because its symptoms are similar to those of other lung ICD-10-CM J84.81
disorders such as asthma, bronchitis, and chronic obstructive pulmonary disease. db key
html:p MeSH D018192
db key
OMIM 606690
html:p db key
Orphanet 538
db key
SNOMED CT 277844007
html:p
html:p
related-gene-list
Lymphedema-distichiasis syndrome https://ghr.nlm.nih.gov/condition/lymphedema-distichiasis-syndrome The prevalence of lymphedema-distichiasis syndrome is unknown. Because html:p autosomal dominant FOXC2 https://ghr.nlm.nih.gov/gene/FOXC2 distichiasis-lymphedema syndrome db key 2014-02 2017-12-29
the extra eyelashes can be overlooked during a medical examination, researchers lymphedema with distichiasis GTR C0265345
believe that some people with this condition may be misdiagnosed as having db key
lymphedema only. GeneReviews lds
db key
MeSH D008209
db key
OMIM 153400
db key
Orphanet 33001
db key
SNOMED CT 8634009
html:p
related-gene-list
Lynch syndrome https://ghr.nlm.nih.gov/condition/lynch-syndrome In the United States, about 140,000 new cases of colorectal cancer are html:p autosomal dominant EPCAM https://ghr.nlm.nih.gov/gene/EPCAM cancer family syndrome db key 2013-05 2017-12-29
diagnosed each year. Approximately 3 to 5 percent of these cancers are caused by related-gene gene-symbol ghr-page familial nonpolyposis colon cancer GTR C1333990
Lynch syndrome. MLH1 https://ghr.nlm.nih.gov/gene/MLH1 hereditary nonpolyposis colorectal cancer db key
related-gene gene-symbol ghr-page hereditary nonpolyposis colorectal neoplasms GTR C1333991
MSH2 https://ghr.nlm.nih.gov/gene/MSH2 HNPCC db key
related-gene gene-symbol ghr-page GTR C1833477
MSH6 https://ghr.nlm.nih.gov/gene/MSH6 db key
related-gene gene-symbol ghr-page GTR C1838333
PMS2 https://ghr.nlm.nih.gov/gene/PMS2 db key
GTR C1838344
db key
GTR C2750471
db key
GTR C2936783
db key
GeneReviews hnpcc
db key
MeSH D003123
db key
OMIM 114500
db key
OMIM 120435
db key
Orphanet 144
db key
related-gene-list SNOMED CT 716318002
Lysinuric protein intolerance https://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance Lysinuric protein intolerance is estimated to occur in 1 in 60,000 newborns html:p autosomal recessive SLC7A7 https://ghr.nlm.nih.gov/gene/SLC7A7 Congenital lysinuria db key 2008-03 2017-12-29
in Finland and 1 in 57,000 newborns in Japan. Outside these populations this Hyperdibasic aminoaciduria GTR C0268647
condition occurs less frequently, but the exact incidence is unknown. LPI db key
LPI - Lysinuric protein intolerance GeneReviews lpi
db key
html:p MeSH D020157
db key
OMIM 222700
db key
Orphanet 470
db key
SNOMED CT 303852004
db key
SNOMED CT 50056009
db key
SNOMED CT 71751002
html:p
related-gene-list
Lysosomal acid lipase deficiency https://ghr.nlm.nih.gov/condition/lysosomal-acid-lipase-deficiency Lysosomal acid lipase deficiency is estimated to occur in 1 in 40,000 to html:p autosomal recessive LIPA https://ghr.nlm.nih.gov/gene/LIPA acid esterase deficiency db key 2017-02 2017-12-29
300,000 individuals, varying by population. The later-onset form is more common acid lipase deficiency GTR C0043208
than the early-onset form. familial visceral xanthomatosis db key
familial xanthomatosis GeneReviews lal-def
LAL deficiency db key
LIPA deficiency MeSH D015223
primary familial xanthomatosis db key
html:p primary familial xanthomatosis with adrenal calcification OMIM 278000
db key
Orphanet 275761
db key
Orphanet 75233
db key
Orphanet 75234
db key
SNOMED CT 715923003
html:p
html:p
html:p
related-gene-list
Mabry syndrome https://ghr.nlm.nih.gov/condition/mabry-syndrome Mabry syndrome is likely a rare condition, but its prevalence is unknown. html:p autosomal recessive PGAP2 https://ghr.nlm.nih.gov/gene/PGAP2 hyperphosphatasia with mental retardation syndrome db key 2013-08 2017-12-29
More than 20 cases have been described in the scientific literature. related-gene gene-symbol ghr-page hyperphosphatasia with and neurologic deficit GTR C1855923
PIGO https://ghr.nlm.nih.gov/gene/PIGO db key
html:p related-gene gene-symbol ghr-page GTR C3280153
PIGV https://ghr.nlm.nih.gov/gene/PIGV db key
GTR C3553637
db key
GTR CN168513
db key
MeSH D054559
html:p db key
OMIM 239300
db key
OMIM 614207
db key
html:p OMIM 614749
db key
Orphanet 247262
db key
SNOMED CT 33982008
html:p
html:p
related-gene-list
Macrozoospermia https://ghr.nlm.nih.gov/condition/macrozoospermia Macrozoospermia is estimated to affect 1 in 10,000 males in North Africa. html:p autosomal recessive AURKC https://ghr.nlm.nih.gov/gene/AURKC infertility associated with multi-tailed spermatozoa and excessive DNA db key 2015-01 2017-12-29
The prevalence of the condition outside this region is unknown. large-headed multiflagellar polyploid spermatozoa GTR C0403812
spermatogenic failure 5 db key
html:p MeSH D000072660
db key
OMIM 243060
db key
SNOMED CT 236817003
html:p
related-gene-list
Maffucci syndrome https://ghr.nlm.nih.gov/condition/maffucci-syndrome Maffucci syndrome is very rare. Since it was first described in 1881, fewer html:p not inherited IDH1 https://ghr.nlm.nih.gov/gene/IDH1 chondrodysplasia with hemangioma db key 2016-02 2017-12-29
than 200 cases have been reported worldwide. related-gene gene-symbol ghr-page chondroplasia angiomatosis GTR C0024454
IDH2 https://ghr.nlm.nih.gov/gene/IDH2 dyschondroplasia and cavernous hemangioma db key
enchondromatosis with hemangiomata MeSH D004687
hemangiomata with dyschondroplasia db key
hemangiomatosis chondrodystrophica OMIM 614569
Kast syndrome db key
html:p multiple angiomas and endochondromas Orphanet 163634
db key
SNOMED CT 46041001
html:p
html:p
html:p
related-gene-list
Mainzer-Saldino syndrome https://ghr.nlm.nih.gov/condition/mainzer-saldino-syndrome Mainzer-Saldino syndrome is a rare disorder; its prevalence is unknown. At html:p autosomal recessive IFT140 https://ghr.nlm.nih.gov/gene/IFT140 conorenal dysplasia db key 2013-05 2017-12-29
least 20 cases have been reported. conorenal syndrome GTR C1849437
html:p Mainzer-Saldino chondrodysplasia db key
Mainzer-Saldino disease MeSH D052177
MZSDS db key
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal OMIM 266920
html:p dysplasia db key
Saldino-Mainzer dysplasia Orphanet 140969
Saldino-Mainzer syndrome db key
short-rib thoracic dysplasia 9 SNOMED CT 254092004
SRTD9
html:p
html:p
related-gene-list
Majeed syndrome https://ghr.nlm.nih.gov/condition/majeed-syndrome Majeed syndrome appears to be very rare; it has been reported in three html:p autosomal recessive LPIN2 https://ghr.nlm.nih.gov/gene/LPIN2 chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, db key 2009-08 2017-12-29
families, all from the Middle East. and neutrophilic dermatosis GTR C1864997
html:p db key
GeneReviews majeed
db key
MeSH D010019
db key
OMIM 609628
db key
html:p Orphanet 77297
db key
SNOMED CT 703540008
html:p
related-gene-list
Mal de Meleda https://ghr.nlm.nih.gov/condition/mal-de-meleda Mal de Meleda is a rare disorder; its prevalence is unknown. The disorder html:p autosomal recessive SLURP1 https://ghr.nlm.nih.gov/gene/SLURP1 acroerythrokeratoderma db key 2014-11 2017-12-29
was first identified on the Croatian island of Mljet (called Meleda in Italian) keratosis palmoplantaris transgrediens of Siemens GTR C0025221
and has since been found in populations worldwide. Meleda disease db key
transgrediens palmoplantar keratoderma of Siemens MeSH D007645
db key
OMIM 248300
db key
Orphanet 87503
db key
SNOMED CT 239069005
related-gene-list
Malignant hyperthermia https://ghr.nlm.nih.gov/condition/malignant-hyperthermia Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which html:p autosomal dominant CACNA1S https://ghr.nlm.nih.gov/gene/CACNA1S anesthesia related hyperthermia db key 2007-10 2017-12-29
people are given anesthetic gases. Susceptibility to malignant hyperthermia is related-gene gene-symbol ghr-page Hyperpyrexia, Malignant GTR C1835161
probably more frequent, because many people with an increased risk of this CACNA2D1 https://ghr.nlm.nih.gov/gene/CACNA2D1 Hyperthermia, Malignant db key
condition are never exposed to drugs that trigger a reaction. related-gene gene-symbol ghr-page Malignant Hyperpyrexia GTR C1838102
RYR1 https://ghr.nlm.nih.gov/gene/RYR1 MHS - Malignant hyperthermia db key
GTR C1866076
db key
GTR C2930982
db key
html:p GTR C2930984
db key
GTR CN031421
db key
GeneReviews mhs
db key
ICD-10-CM T88.3
db key
MeSH D008305
db key
OMIM 145600
db key
OMIM 154275
db key
OMIM 154276
db key
OMIM 600467
db key
OMIM 601887
db key
OMIM 601888
db key
Orphanet 423
db key
SNOMED CT 213026003
db key
related-gene-list SNOMED CT 405501007
Malignant migrating partial of infancy https://ghr.nlm.nih.gov/condition/malignant-migrating-partial--of-infanc MMPSI is a rare condition. Although its prevalence is unknown, html:p not inherited KCNT1 https://ghr.nlm.nih.gov/gene/KCNT1 early infantile epileptic encephalopathy 14 db key 2014-03 2017-12-29
y approximately 100 cases have been described in the medical literature. related-gene gene-symbol ghr-page EIEE14 GTR C3554195
SCN1A https://ghr.nlm.nih.gov/gene/SCN1A malignant migrating partial of infancy db key
related-gene gene-symbol ghr-page migrating partial of infancy MeSH D013036
TBC1D24 https://ghr.nlm.nih.gov/gene/TBC1D24 migrating partial in infancy db key
migrating partial of infancy OMIM 614959
html:p MMPSI db key
Orphanet 293181
db key
SNOMED CT 432001000124109
html:p
html:p
html:p
related-gene-list
Malonyl-CoA decarboxylase deficiency https://ghr.nlm.nih.gov/condition/malonyl-coa-decarboxylase-deficiency This condition is very rare; fewer than 30 cases have been reported. html:p autosomal recessive MLYCD https://ghr.nlm.nih.gov/gene/MLYCD deficiency of malonyl-CoA decarboxylase db key 2010-01 2017-12-29
malonic aciduria GTR C0342793
malonyl-coenzyme A decarboxylase deficiency db key
MCD deficiency MeSH D008661
db key
OMIM 248360
db key
Orphanet 943
db key
related-gene-list SNOMED CT 124594007
Mandibuloacral dysplasia https://ghr.nlm.nih.gov/condition/mandibuloacral-dysplasia Mandibuloacral dysplasia is a rare condition; its prevalence is unknown. html:p autosomal recessive LMNA https://ghr.nlm.nih.gov/gene/LMNA mandibuloacral dysostosis db key 2013-08 2017-12-29
related-gene gene-symbol ghr-page GTR C0432291
ZMPSTE24 https://ghr.nlm.nih.gov/gene/ZMPSTE24 db key
GTR C1837756
db key
MeSH D008060
db key
OMIM 248370
html:p db key
OMIM 608612
db key
Orphanet 2457
db key
html:p SNOMED CT 109419009
html:p
related-gene-list
Mandibulofacial dysostosis with microcephaly https://ghr.nlm.nih.gov/condition/mandibulofacial-dysostosis-with-microcephaly MFDM is a rare disorder; its exact prevalence is unknown. More than 60 html:p autosomal dominant EFTUD2 https://ghr.nlm.nih.gov/gene/EFTUD2 mandibulofacial dysostosis, Guion-Almeida type db key 2014-09 2017-12-29
affected individuals have been described in the medical literature. MFDGA GTR C1864652
MFDM db key
GeneReviews mf-dys-mic
db key
ICD-10-CM Q75.4
db key
html:p MeSH D008342
db key
OMIM 610536
db key
Orphanet 79113
db key
SNOMED CT 711543008
html:p
related-gene-list
Manitoba oculotrichoanal syndrome https://ghr.nlm.nih.gov/condition/manitoba-oculotrichoanal-syndrome Manitoba oculotrichoanal syndrome is estimated to occur in 2 to 6 in 1,000 html:p autosomal recessive FREM1 https://ghr.nlm.nih.gov/gene/FREM1 Marles-Greenberg-Persaud syndrome db key 2011-05 2017-12-29
people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. Marles Greenberg Persaud syndrome GTR C1855425
Although this region has the highest incidence of the condition, it has also Marles syndrome db key
been diagnosed in a few people from other parts of the world. html:p MOTA GeneReviews mota
db key
MeSH D000015
db key
OMIM 248450
db key
SNOMED CT 703539006
html:p
html:p
html:p
related-gene-list
Mannose-binding lectin deficiency https://ghr.nlm.nih.gov/condition/mannose-binding-lectin-deficiency Mannose-binding lectin deficiency is thought to affect approximately 5 to html:p pattern unknown MBL2 https://ghr.nlm.nih.gov/gene/MBL2 mannose-binding lectin protein deficiency db key 2012-03 2017-12-29
10 percent of people worldwide; however, many affected individuals have no signs mannose-binding protein deficiency GTR C1835140
or symptoms related to low mannose-binding lectin levels. The condition is more MBL deficiency db key
common in certain populations, such as sub-Saharan Africans. MBL2 deficiency MeSH D007153
MBP deficiency db key
OMIM 614372
db key
html:p SNOMED CT 703538003
related-gene-list
Maple syrup urine disease https://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease Maple syrup urine disease affects an estimated 1 in 185,000 infants html:p autosomal recessive BCKDHA https://ghr.nlm.nih.gov/gene/BCKDHA BCKD deficiency db key 2017-07 2017-12-29
worldwide. The disorder occurs much more frequently in the Old Order Mennonite related-gene gene-symbol ghr-page branched-chain alpha-keto acid dehydrogenase deficiency GTR C0024776
population, with an estimated incidence of about 1 in 380 newborns. BCKDHB https://ghr.nlm.nih.gov/gene/BCKDHB branched-chain ketoaciduria db key
related-gene gene-symbol ghr-page ketoacidemia GTR C0268568
DBT https://ghr.nlm.nih.gov/gene/DBT MSUD db key
related-gene gene-symbol ghr-page GTR C1621920
html:p PPM1K https://ghr.nlm.nih.gov/gene/PPM1K db key
GeneReviews msud
db key
ICD-10-CM E71.0
db key
MeSH D008375
db key
OMIM 248600
db key
OMIM 615135
db key
Orphanet 511
db key
Orphanet 268145
db key
Orphanet 268162
db key
SNOMED CT 27718001
db key
SNOMED CT 31368008
db key
SNOMED CT 405287008
db key
SNOMED CT 405288003
db key
related-gene-list SNOMED CT 54064006
Marfan syndrome https://ghr.nlm.nih.gov/condition/marfan-syndrome The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide. html:p autosomal dominant FBN1 https://ghr.nlm.nih.gov/gene/FBN1 Marfan's syndrome db key 2012-03 2017-12-29
MFS GTR C0024796
db key
GeneReviews marfan
db key
html:p ICD-10-CM Q87.4
db key
ICD-10-CM Q87.40
db key
ICD-10-CM Q87.41
db key
ICD-10-CM Q87.42
html:p db key
ICD-10-CM Q87.43
db key
ICD-10-CM Q87.410
db key
ICD-10-CM Q87.418
html:p db key
MeSH D008382
db key
OMIM 154700
db key
Orphanet 558
db key
SNOMED CT 19346006
db key
SNOMED CT 234035006
db key
SNOMED CT 57201002
html:p
related-gene-list
Marinesco-Sjögren syndrome https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome Marinesco-Sjögren syndrome appears to be a rare condition. More than 100 html:p autosomal recessive SIL1 https://ghr.nlm.nih.gov/gene/SIL1 Garland-Moorhouse syndrome db key 2015-02 2017-12-29
cases have been reported worldwide. hereditary oligophrenic cerebello-lental degeneration GTR C0024814
Marinesco-Garland syndrome db key
MSS GeneReviews mss
db key
MeSH D013132
db key
html:p OMIM 248800
db key
Orphanet 559
db key
SNOMED CT 80734006
html:p
related-gene-list
Maternally inherited diabetes and deafness https://ghr.nlm.nih.gov/condition/maternally-inherited-diabetes-and-deafness About 1 percent of people with diabetes have MIDD. The condition is most html:p mitochondrial MT-TE https://ghr.nlm.nih.gov/gene/MT-TE Ballinger-Wallace syndrome db key 2012-10 2017-12-29
common in the Japanese population and has been found in populations worldwide. related-gene gene-symbol ghr-page diabetes mellitus, type II, with deafness GTR C0342289
MT-TK https://ghr.nlm.nih.gov/gene/MT-TK maternally transmitted diabetes-deafness syndrome db key
related-gene gene-symbol ghr-page MIDD ICD-10-CM E13.69
MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1 mitochondrial inherited diabetes and deafness db key
related-mitochondrial-dna name ghr-page NIDDM with deafness MeSH D003920
mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna noninsulin-dependent diabetes mellitus with deafness db key
html:p OMIM 520000
db key
Orphanet 225
db key
SNOMED CT 237619009
related-gene-list
Mayer-Rokitansky-Küster-Hauser syndrome https://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome MRKH syndrome affects approximately 1 in 4,500 newborn girls. html:p autosomal dominant LHX1 https://ghr.nlm.nih.gov/gene/LHX1 congenital absence of the uterus and vagina (CAUV) db key 2017-05 2017-12-29
memo related-gene gene-symbol ghr-page genital renal ear syndrome (GRES) GTR C1698581
pattern unknown SHOX https://ghr.nlm.nih.gov/gene/SHOX MRKH syndrome db key
related-gene gene-symbol ghr-page Mullerian agenesis MeSH D058489
TBX6 https://ghr.nlm.nih.gov/gene/TBX6 Mullerian aplasia db key
Mullerian dysgenesis OMIM 277000
Rokitansky Kuster Hauser syndrome db key
Rokitansky syndrome OMIM 601076
db key
Orphanet 2578
html:p db key
Orphanet 3109
db key
Orphanet 247775
db key
SNOMED CT 253828000
related-gene-list
McCune-Albright syndrome https://ghr.nlm.nih.gov/condition/mccune-albright-syndrome McCune-Albright syndrome occurs in between 1 in 100,000 and 1 in 1,000,000 html:p not inherited GNAS https://ghr.nlm.nih.gov/gene/GNAS Albright-McCune-Sternberg syndrome db key 2009-01 2017-12-29
people worldwide. Albright-Sternberg syndrome GTR C0242292
html:p Albright syndrome db key
Albright's disease GeneReviews mccune-albright
Albright's disease of bone db key
Albright's syndrome ICD-10-CM Q78.1
Albright's syndrome with precocious puberty db key
fibrous dysplasia with pigmentary skin changes and precocious puberty MeSH D005359
MAS db key
osteitis fibrosa disseminata OMIM 174800
PFD db key
POFD Orphanet 562
html:p polyostotic fibrous dysplasia db key
SNOMED CT 36517007
html:p
html:p
related-gene-list
McKusick-Kaufman syndrome https://ghr.nlm.nih.gov/condition/mckusick-kaufman-syndrome This condition was first described in the Old Order Amish population, where html:p autosomal recessive MKKS https://ghr.nlm.nih.gov/gene/MKKS HMCS db key 2008-05 2017-12-29
it affects an estimated 1 in 10,000 people. The incidence of McKusick-Kaufman Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation GTR C0948368
syndrome in non-Amish populations is unknown. Kaufman-McKusick syndrome db key
MKS GeneReviews mkks
html:p db key
MeSH D006330
db key
MeSH D017689
db key
MeSH D052202
db key
OMIM 236700
db key
html:p Orphanet 2473
db key
SNOMED CT 702407009
related-gene-list
McLeod neuroacanthocytosis syndrome https://ghr.nlm.nih.gov/condition/mcleod-neuroacanthocytosis-syndrome McLeod neuroacanthocytosis syndrome is rare; approximately 150 cases have html:p X-linked recessive XK https://ghr.nlm.nih.gov/gene/XK McLeod syndrome db key 2015-04 2017-12-29
been reported worldwide. GTR C0398568
db key
GeneReviews mcleod
db key
MeSH D054546
html:p db key
OMIM 314850
db key
Orphanet 59306
db key
SNOMED CT 234411007
html:p
html:p
related-gene-list
MDA5 deficiency https://ghr.nlm.nih.gov/condition/mda5-deficiency MDA5 deficiency is likely a rare disorder. Its prevalence is unknown. html:p autosomal dominant IFIH1 https://ghr.nlm.nih.gov/gene/IFIH1 IFIH1 deficiency db key 2017-11 2017-12-29
memo MeSH D007153
autosomal recessive
html:p
related-gene-list
Meckel syndrome https://ghr.nlm.nih.gov/condition/meckel-syndrome Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. It is html:p autosomal recessive B9D1 https://ghr.nlm.nih.gov/gene/B9D1 dysencephalia splanchnocystica db key 2012-05 2017-12-29
more common in certain populations; for example, the condition affects about 1 related-gene gene-symbol ghr-page Meckel-Gruber syndrome GTR C1846357
in 9,000 people of Finnish ancestry and about 1 in 3,000 people of Belgian B9D2 https://ghr.nlm.nih.gov/gene/B9D2 MKS db key
ancestry. related-gene gene-symbol ghr-page GTR C1864148
CC2D2A https://ghr.nlm.nih.gov/gene/CC2D2A db key
related-gene gene-symbol ghr-page GTR C1969052
html:p CEP290 https://ghr.nlm.nih.gov/gene/CEP290 db key
related-gene gene-symbol ghr-page GTR C1970161
MKS1 https://ghr.nlm.nih.gov/gene/MKS1 db key
related-gene gene-symbol ghr-page GTR C2673885
RPGRIP1L https://ghr.nlm.nih.gov/gene/RPGRIP1L db key
related-gene gene-symbol ghr-page GTR C2676790
TMEM67 https://ghr.nlm.nih.gov/gene/TMEM67 db key
related-gene gene-symbol ghr-page GTR C3280036
TMEM216 https://ghr.nlm.nih.gov/gene/TMEM216 db key
html:p GTR C3280155
db key
GTR C3714506
db key
GTR C3836857
db key
MeSH D000015
db key
OMIM 249000
db key
OMIM 267010
db key
OMIM 603194
db key
OMIM 607361
db key
OMIM 611134
db key
OMIM 611561
db key
OMIM 612284
db key
OMIM 613885
db key
OMIM 614175
db key
OMIM 614209
db key
Orphanet 564
db key
inheritance-pattern-list SNOMED CT 29076005
MECP2 duplication syndrome https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome The prevalence of MECP2 duplication syndrome is unknown; more than 200 html:p x X-linked gene-symbol synonym Lubs X-linked mental retardation syndrome db-key db key 2017-03 2017-12-29
affected individuals have been described in the scientific literature. It is MECP2 synonym trisomy Xq28 GTR C1846058
estimated that this condition is responsible for 1 to 2 percent of all cases of db-key db key
disability caused by changes in the X chromosome. GeneReviews mecp2-dup
db-key db key
MeSH D038901
db-key db key
OMIM 300260
db-key db key
duplication syndrome have recurrent respiratory tract infections. These Orphanet 1762
respiratory infections are a major cause of death in affected individuals, with db-key db key
only half surviving past age 25. SNOMED CT 702816000
inheritance-pattern-list
MECP2-related severe neonatal encephalopathy https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy MECP2-related severe neonatal encephalopathy is likely a rare condition. html:p x X-linked gene-symbol synonym methyl-cytosine phosphate guanine binding protein 2 related severe neonatal db-key db key 2016-02 2017-12-29
Twenty to 30 affected males have been reported in the scientific literature. MECP2 encephalopathy GTR C1968556
synonym severe congenital encephalopathy due to MECP2 mutation db-key db key
synonym severe neonatal encephalopathy due to MECP2 mutations GeneReviews rett
db-key db key
MeSH D001925
db-key db key
Orphanet 209370
db-key db key
SNOMED CT 711487002
-related severe neonatal encephalopathy do not live past the age of 2 because of
respiratory failure.
html:p
-related severe neonatal encephalopathy.
related-gene-list
Medium-chain acyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency In the United States, the estimated incidence of MCAD deficiency is 1 in html:p autosomal recessive ACADM https://ghr.nlm.nih.gov/gene/ACADM ACADM deficiency db key 2015-02 2017-12-29
17,000 people. The condition is more common in people of northern European MCAD deficiency GTR C0220710
ancestry than in other ethnic groups. MCADD db key
html:p MCADH deficiency GeneReviews mcad
medium chain acyl-CoA dehydrogenase deficiency db key
medium-chain acyl-coenzyme A dehydrogenase deficiency ICD-10-CM E71.311
db key
MeSH D008052
db key
OMIM 201450
html:p db key
Orphanet 42
db key
SNOMED CT 128596003
related-gene-list
Medullary cystic kidney disease type 1 https://ghr.nlm.nih.gov/condition/medullary-cystic-kidney-disease-type-1 MCKD1 is a rare disorder, although its prevalence is unknown. html:p autosomal dominant MUC1 https://ghr.nlm.nih.gov/gene/MUC1 autosomal dominant interstitial kidney disease db key 2013-06 2017-12-29
autosomal dominant medullary cystic kidney disease GTR C1868139
polycystic kidneys, medullary type db key
ICD-10-CM Q61.5
db key
MeSH D007674
html:p db key
OMIM 174000
db key
Orphanet 34149
db key
SNOMED CT 444699000
html:p
related-gene-list
Meesmann corneal dystrophy https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy Meesmann corneal dystrophy is a rare disorder whose prevalence is unknown. html:p autosomal dominant KRT3 https://ghr.nlm.nih.gov/gene/KRT3 corneal dystrophy, juvenile epithelial of Meesmann db key 2012-08 2017-12-29
It was first described in a large, multi-generational German family with more related-gene gene-symbol ghr-page corneal dystrophy, Meesmann epithelial GTR C0339277
than 100 affected members. Since then, the condition has been reported in KRT12 https://ghr.nlm.nih.gov/gene/KRT12 juvenile hereditary epithelial dystrophy db key
individuals and families worldwide. MECD ICD-10-CM H18.52
Meesman's corneal dystrophy db key
html:p Meesmann corneal epithelial dystrophy MeSH D053559
Meesmann epithelial corneal dystrophy db key
OMIM 122100
db key
Orphanet 98954
db key
SNOMED CT 1674008
related-gene-list
Megacystis-microcolon-intestinal hypoperistalsis syndrome https://ghr.nlm.nih.gov/condition/megacystis-microcolon-intestinal-hypoperistals MMIHS is a rare disorder. More than 200 cases have been reported in the html:p autosomal dominant ACTG2 https://ghr.nlm.nih.gov/gene/ACTG2 Berdon syndrome db key 2017-10 2017-12-29
is-syndrome medical literature. memo related-gene gene-symbol ghr-page megacystis, microcolon, hypoperistalsis syndrome GTR C1835084
autosomal recessive LMOD1 https://ghr.nlm.nih.gov/gene/LMOD1 MMIH syndrome db key
related-gene gene-symbol ghr-page MMIHS GeneReviews actg2-dis
html:p MYH11 https://ghr.nlm.nih.gov/gene/MYH11 db key
related-gene gene-symbol ghr-page MeSH D005767
MYLK https://ghr.nlm.nih.gov/gene/MYLK db key
OMIM 155310
db key
html:p Orphanet 2241
db key
SNOMED CT 253781004
html:p
html:p
html:p
related-gene-list
Megalencephalic leukoencephalopathy with subcortical cysts https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subco Megalencephalic leukoencephalopathy with subcortical cysts is a rare html:p autosomal dominant HEPACAM https://ghr.nlm.nih.gov/gene/HEPACAM infantile leukoencephalopathy and megalencephaly db key 2015-03 2017-12-29
rtical-cysts condition; its exact prevalence is unknown. More than 150 cases have been memo related-gene gene-symbol ghr-page leukoencephalopathy with swelling and a discrepantly mild course GTR C1858854
reported in the scientific literature. autosomal recessive MLC1 https://ghr.nlm.nih.gov/gene/MLC1 leukoencephalopathy with swelling and cysts db key
LVM GTR C3151355
MLC db key
vacuolating leukoencephalopathy GTR C3151356
vacuolating megalencephalic leukoencephalopathy with subcortical cysts db key
van der Knaap disease GTR CN176898
db key
GeneReviews mlc
db key
MeSH D020279
db key
OMIM 604004
html:p db key
OMIM 613925
db key
OMIM 613926
db key
Orphanet 2478
db key
SNOMED CT 703536004
html:p
related-gene-list
Megalencephaly-capillary malformation syndrome https://ghr.nlm.nih.gov/condition/megalencephaly-capillary-malformation-syndrome The prevalence of MCAP is unknown. At least 150 affected individuals have html:p not inherited PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA M-CM db key 2017-06 2017-12-29
been reported in the medical literature. Because the condition is often thought macrocephaly-capillary malformation syndrome GTR C1865285
to be misdiagnosed or underdiagnosed, it may be more common than reported. macrocephaly cutis marmorata telangiectatica congenita db key
MCAP GeneReviews pik3ca-overgrowth
html:p MCMTC db key
megalencephaly-capillary malformation-polymicrogyria syndrome MeSH D054079
megalencephaly cutis marmorata telangiectatica congenita db key
MeSH D058627
db key
OMIM 602501
db key
Orphanet 60040
db key
SNOMED CT 703370002
html:p
html:p
html:p
html:p
related-gene-list
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome https://ghr.nlm.nih.gov/condition/megalencephaly-polymicrogyria-polydactyly-hydr MPPH syndrome appears to be a rare disease. About 60 affected individuals html:p autosomal dominant AKT3 https://ghr.nlm.nih.gov/gene/AKT3 MEG-PMG-POLY-HYD db key 2017-01 2017-12-29
ocephalus-syndrome have been described in the medical literature. related-gene gene-symbol ghr-page megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus syndrome GTR C1863924
CCND2 https://ghr.nlm.nih.gov/gene/CCND2 MPPH db key
related-gene gene-symbol ghr-page MPPH syndrome GTR C4014738
PIK3R2 https://ghr.nlm.nih.gov/gene/PIK3R2 db key
GTR C4014742
db key
GeneReviews mpph
db key
MeSH D006849
db key
html:p MeSH D017689
db key
MeSH D058627
db key
MeSH D065706
db key
OMIM 603387
db key
html:p OMIM 615937
db key
OMIM 615938
db key
html:p Orphanet 83473
db key
SNOMED CT 722036008
related-gene-list
MEGDEL syndrome https://ghr.nlm.nih.gov/condition/megdel-syndrome MEGDEL syndrome is a rare disorder; its prevalence is unknown. At least 40 html:p autosomal recessive SERAC1 https://ghr.nlm.nih.gov/gene/SERAC1 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, db key 2014-07 2017-12-29
affected individuals have been mentioned in the medical literature. and Leigh-like syndrome GTR C3553597
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like db key
html:p syndrome GeneReviews megdel
MEGDHEL syndrome db key
SERAC1 defect ICD-10-CM E71.111
db key
MeSH D008052
html:p db key
OMIM 614739
db key
html:p Orphanet 352328
db key
SNOMED CT 711409002
html:p
html:p
html:p
related-gene-list
Meier-Gorlin syndrome https://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome Meier-Gorlin syndrome is a rare condition; however, its prevalence is html:p autosomal recessive CDC6 https://ghr.nlm.nih.gov/gene/CDC6 ear, patella, syndrome db key 2014-02 2017-12-29
unknown. related-gene gene-symbol ghr-page microtia, absent patellae, micrognathia syndrome GTR C1868684
CDT1 https://ghr.nlm.nih.gov/gene/CDT1 db key
related-gene gene-symbol ghr-page GTR C3151097
ORC1 https://ghr.nlm.nih.gov/gene/ORC1 db key
related-gene gene-symbol ghr-page GTR C3151113
ORC4 https://ghr.nlm.nih.gov/gene/ORC4 db key
html:p related-gene gene-symbol ghr-page GTR C3151120
ORC6 https://ghr.nlm.nih.gov/gene/ORC6 db key
GTR C3151126
db key
html:p MeSH D004392
db key
OMIM 224690
db key
html:p OMIM 613800
db key
OMIM 613803
db key
OMIM 613804
html:p db key
OMIM 613805
db key
Orphanet 2554
db key
synonym-list db-key-list SNOMED CT 703508009
Meige disease https://ghr.nlm.nih.gov/condition/meige-disease The prevalence of Meige disease is unknown. Collectively, the many types of html:p autosomal dominant synonym late-onset lymphedema key 2017-12-29
primary lymphedema affect an estimated 1 in 100,000 people younger than 20; synonym LMPH2 db-key C1704425
Meige disease is the most common type of primary lymphedema.For unknown reasons, synonym lymphedema praecox key
this condition affects females about three times as often as males. synonym Meige lymphedema db-key Q82.0
key
html:p db-key D008209
key
db-key 153200
key
db-key 289825
key
db-key 90186
key
db-key 400040008
key
related-gene-list 77123007
Melnick-Needles syndrome https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been html:p X-linked dominant FLNA https://ghr.nlm.nih.gov/gene/FLNA Melnick-Needles osteodysplasty db key 2007-11 2017-12-29
reported worldwide. MNS GTR C0025237
osteodysplasty of Melnick and Needles db key
GeneReviews opd
db key
MeSH D010009
db key
OMIM 309350
html:p db key
Orphanet 2484
db key
SNOMED CT 13449007
html:p
html:p
html:p
synonym-list db-key-list
Ménière disease https://ghr.nlm.nih.gov/condition/meniere-disease The prevalence of Ménière disease varies in different geographic regions html:p autosomal dominant synonym aural vertigo key 2017-12-29
and ethnic groups. It appears to be more common in people of European descent synonym Meniere disease db-key C0025281
than in those with other backgrounds. In the United States, there are an synonym Meniere's disease key
estimated 615,000 people with Ménière disease, and more than 45,000 new cases synonym Meniere's syndrome db-key H81.0
are diagnosed each year. synonym Ménière's disease key
synonym Ménière's vertigo db-key H81.01
html:p synonym otogenic vertigo key
synonym primary endolymphatic hydrops db-key H81.02
key
db-key H81.03
key
html:p db-key H81.09
key
db-key D008575
html:p key
db-key 156000
key
db-key 45360
key
related-gene-list 13445001
Menkes syndrome https://ghr.nlm.nih.gov/condition/menkes-syndrome The incidence of Menkes syndrome and occipital horn syndrome is estimated html:p X-linked recessive ATP7A https://ghr.nlm.nih.gov/gene/ATP7A Copper transport disease db key 2009-03 2017-12-29
to be 1 in 100,000 newborns. Hypocupremia, Congenital GTR C0022716
Kinky Hair Syndrome db key
Menkea syndrome GeneReviews menkes
Menkes Disease db key
MK MeSH D007706
MNK db key
Steely Hair Syndrome OMIM 304150
X-linked copper deficiency db key
html:p OMIM 309400
db key
Orphanet 565
db key
related-gene-list SNOMED CT 59178007
Metachromatic leukodystrophy https://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 html:p autosomal recessive ARSA https://ghr.nlm.nih.gov/gene/ARSA ARSA deficiency db key 2013-02 2017-12-29
individuals worldwide. The condition is more common in certain genetically related-gene gene-symbol ghr-page arylsulfatase A deficiency disease GTR C0023522
isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel PSAP https://ghr.nlm.nih.gov/gene/PSAP cerebral sclerosis, diffuse, metachromatic form db key
from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the cerebroside sulphatase deficiency disease GTR C0268262
Navajo Nation, and 1 in 8,000 among Arab groups in Israel. Greenfield disease db key
metachromatic leukoencephalopathy GeneReviews mld
MLD db key
sulfatide lipidosis ICD-10-CM E75.25
sulfatidosis db key
MeSH D007966
html:p db key
OMIM 249900
db key
OMIM 250100
db key
Orphanet 512
db key
SNOMED CT 238031009
db key
html:p SNOMED CT 24326000
db key
SNOMED CT 396338004
db key
SNOMED CT 40802007
db key
SNOMED CT 44359008
db key
html:p SNOMED CT 68390005
html:p
html:p
related-gene-list
Metatropic dysplasia https://ghr.nlm.nih.gov/condition/metatropic-dysplasia Metatropic dysplasia is a rare disease; its exact prevalence is unknown. html:p autosomal dominant TRPV4 https://ghr.nlm.nih.gov/gene/TRPV4 metatropic dwarfism db key 2012-04 2017-12-29
More than 80 affected individuals have been reported in the scientific metatropic dysplasia type 1 GTR C0265281
literature. db key
GeneReviews cmt2c
db key
html:p MeSH D004392
db key
OMIM 156530
db key
Orphanet 2635
db key
SNOMED CT 22764001
html:p
html:p
related-gene-list
Methemoglobinemia, beta-globin type https://ghr.nlm.nih.gov/condition/methemoglobinemia-beta-globin-type The incidence of methemoglobinemia, beta-globin type is unknown. html:p autosomal dominant HBB https://ghr.nlm.nih.gov/gene/HBB blue baby syndrome db key 2015-07 2017-12-29
congenital methemoglobinemia GTR C1840779
hemoglobin M disease db key
ICD-10-CM D74.0
db key
MeSH D008708
db key
OMIM 141900
db key
Orphanet 621
db key
Orphanet 330041
db key
SNOMED CT 267550008
related-gene-list
Methylmalonic acidemia https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia This condition occurs in an estimated 1 in 50,000 to 100,000 people. html:p autosomal recessive MCEE https://ghr.nlm.nih.gov/gene/MCEE isolated methylmalonic acidemia db key 2011-07 2017-12-29
related-gene gene-symbol ghr-page methylmalonic aciduria GTR C0268583
MMAA https://ghr.nlm.nih.gov/gene/MMAA MMA db key
related-gene gene-symbol ghr-page GTR C1855100
MMAB https://ghr.nlm.nih.gov/gene/MMAB db key
related-gene gene-symbol ghr-page GTR C1855102
MMADHC https://ghr.nlm.nih.gov/gene/MMADHC db key
related-gene gene-symbol ghr-page GTR C1855109
MUT https://ghr.nlm.nih.gov/gene/MUT db key
GTR C1855114
db key
GeneReviews mma
db key
ICD-10-CM E71.120
db key
MeSH D008661
db key
OMIM 251000
db key
OMIM 251100
db key
OMIM 251110
db key
OMIM 251120
db key
OMIM 277410
db key
Orphanet 293355
db key
SNOMED CT 42393006
db key
SNOMED CT 69614003
db key
SNOMED CT 73843004
db key
related-gene-list SNOMED CT 82245003
Methylmalonic acidemia with homocystinuria https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia-with-homocystinuria The most common form of the condition, called methylmalonic acidemia with html:p autosomal recessive ABCD4 https://ghr.nlm.nih.gov/gene/ABCD4 methylmalonic acidemia and homocystinemia db key 2016-02 2017-12-29
homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns memo related-gene gene-symbol ghr-page methylmalonic acidemia and homocystinuria GTR C1848552
worldwide. Studies indicate that this form of the condition may be even more X-linked recessive HCFC1 https://ghr.nlm.nih.gov/gene/HCFC1 methylmalonic aciduria and homocystinuria db key
common in particular populations. These studies estimate the condition occurs in related-gene gene-symbol ghr-page vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA GTR C1848561
1 in 100,000 people in New York and 1 in 60,000 people in California. Other LMBRD1 https://ghr.nlm.nih.gov/gene/LMBRD1 mutase and homocysteine:methyltetrahydrofolate methyltransferase db key
types of methylmalonic acidemia with homocystinuria are much less common. Fewer related-gene gene-symbol ghr-page vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA GTR C1848578
than 20 cases of each of the other types have been reported in the medical MMACHC https://ghr.nlm.nih.gov/gene/MMACHC mutase and methionine synthase activities db key
literature. html:p related-gene gene-symbol ghr-page GTR C3553915
MMADHC https://ghr.nlm.nih.gov/gene/MMADHC db key
GeneReviews cbl
db key
MeSH D000592
db key
OMIM 277380
db key
OMIM 277400
db key
OMIM 277410
db key
OMIM 614857
db key
html:p Orphanet 26
db key
Orphanet 79282
db key
Orphanet 79283
db key
Orphanet 79284
db key
SNOMED CT 4409006
related-gene-list
Mevalonate kinase deficiency https://ghr.nlm.nih.gov/condition/mevalonate-kinase-deficiency More than 200 people with mevalonate kinase deficiency have been reported html:p autosomal recessive MVK https://ghr.nlm.nih.gov/gene/MVK hyper IgD syndrome db key 2011-04 2017-12-29
worldwide; the majority of these individuals have HIDS. hyperimmunoglobulin D with periodic fever GTR C0398691
hyperimmunoglobulinemia D db key
mevalonic aciduria GTR C1959626
mevalonicaciduria db key
periodic fever, Dutch type MeSH D054078
html:p db key
OMIM 260920
db key
OMIM 610377
html:p db key
Orphanet 29
db key
SNOMED CT 124327008
db key
SNOMED CT 234538002
html:p
related-gene-list
Microcephalic osteodysplastic primordial dwarfism type II https://ghr.nlm.nih.gov/condition/microcephalic-osteodysplastic-primordial-dwarf MOPDII appears to be a rare condition, although its prevalence is unknown. html:p autosomal recessive PCNT https://ghr.nlm.nih.gov/gene/PCNT Majewski osteodysplastic primordial dwarfism type II db key 2011-01 2017-12-29
ism-type-ii MOPD2 GTR C0432246
MOPDII db key
osteodysplastic primordial dwarfism type II MeSH D004392
db key
OMIM 210720
db key
Orphanet 2637
db key
SNOMED CT 254103003
html:p
html:p
related-gene-list
Microcephaly-capillary malformation syndrome https://ghr.nlm.nih.gov/condition/microcephaly-capillary-malformation-syndrome Microcephaly-capillary malformation syndrome is rare. About a dozen people html:p autosomal recessive STAMBP https://ghr.nlm.nih.gov/gene/STAMBP MIC-CAP syndrome db key 2014-02 2017-12-29
have been diagnosed with the disorder. GTR C3280296
db key
html:p GeneReviews miccap-ms
db key
MeSH D008831
db key
MeSH D054079
db key
OMIM 614261
db key
html:p Orphanet 294016
db key
SNOMED CT 703369003
html:p
related-gene-list
Microphthalmia https://ghr.nlm.nih.gov/condition/microphthalmia Microphthalmia occurs in approximately 1 in 10,000 individuals. html:p autosomal recessive BCOR https://ghr.nlm.nih.gov/gene/BCOR microphthalmos db key 2011-11 2017-12-29
related-gene gene-symbol ghr-page GTR C0026010
BMP4 https://ghr.nlm.nih.gov/gene/BMP4 db key
related-gene gene-symbol ghr-page GTR C1834918
GDF3 https://ghr.nlm.nih.gov/gene/GDF3 db key
related-gene gene-symbol ghr-page GTR C1834919
GDF6 https://ghr.nlm.nih.gov/gene/GDF6 db key
related-gene gene-symbol ghr-page GTR C1845877
html:p MFRP https://ghr.nlm.nih.gov/gene/MFRP db key
related-gene gene-symbol ghr-page GTR C1854018
OTX2 https://ghr.nlm.nih.gov/gene/OTX2 db key
related-gene gene-symbol ghr-page GTR C1855052
PAX6 https://ghr.nlm.nih.gov/gene/PAX6 db key
related-gene gene-symbol ghr-page GTR C1855053
PRSS56 https://ghr.nlm.nih.gov/gene/PRSS56 db key
related-gene gene-symbol ghr-page GTR C1859311
html:p RAX https://ghr.nlm.nih.gov/gene/RAX db key
related-gene gene-symbol ghr-page GTR C1864720
SHH https://ghr.nlm.nih.gov/gene/SHH db key
related-gene gene-symbol ghr-page GTR C1864721
SIX6 https://ghr.nlm.nih.gov/gene/SIX6 db key
html:p related-gene gene-symbol ghr-page GTR C1968843
SOX2 https://ghr.nlm.nih.gov/gene/SOX2 db key
related-gene gene-symbol ghr-page GTR C1970236
STRA6 https://ghr.nlm.nih.gov/gene/STRA6 db key
related-gene gene-symbol ghr-page GTR C1970237
VSX2 https://ghr.nlm.nih.gov/gene/VSX2 db key
GTR C2751307
db key
GTR C3150757
db key
GTR C3150968
db key
GTR C3150969
db key
GTR C3554524
db key
GTR CN120488
db key
GeneReviews anophthalmia-ov
db key
ICD-10-CM Q11.2
db key
MeSH D008850
db key
OMIM 156850
db key
OMIM 156900
db key
OMIM 212550
db key
OMIM 251505
db key
OMIM 251600
db key
OMIM 300345
db key
OMIM 605738
db key
OMIM 610092
db key
OMIM 610093
db key
OMIM 611038
db key
OMIM 611040
db key
OMIM 611638
db key
OMIM 613094
db key
OMIM 613517
db key
OMIM 613703
db key
OMIM 613704
db key
OMIM 615113
db key
OMIM 615145
db key
Orphanet 2542
db key
Orphanet 2543
db key
Orphanet 98555
db key
Orphanet 98938
db key
related-gene-list SNOMED CT 61142002
Microphthalmia with linear skin defects syndrome https://ghr.nlm.nih.gov/condition/microphthalmia-with-linear-skin-defects-syndro The prevalence of microphthalmia with linear skin defects syndrome is html:p X-linked dominant HCCS https://ghr.nlm.nih.gov/gene/HCCS MCOPS7 db key 2009-10 2017-12-29
me unknown. More than 50 affected individuals have been identified. related-chromosome name ghr-page microphthalmia syndromic 7 GTR C0796070
X https://ghr.nlm.nih.gov/chromosome/X microphthalmia with linear skin lesions syndrome db key
microphthalmia, dermal aplasia, and sclerocornea GeneReviews microph-lsd
microphthalmia, syndromic 7 db key
MIDAS syndrome MeSH D008850
MLS syndrome db key
html:p syndromic microphthalmia-7 OMIM 309801
db key
Orphanet 2556
db key
SNOMED CT 721879006
related-gene-list
Microvillus inclusion disease https://ghr.nlm.nih.gov/condition/microvillus-inclusion-disease The prevalence of microvillus inclusion disease is unknown. At least 200 html:p autosomal recessive MYO5B https://ghr.nlm.nih.gov/gene/MYO5B congenital enteropathy db key 2014-07 2017-12-29
cases have been reported in Europe, although this condition occurs worldwide. related-gene gene-symbol ghr-page congenital familial protracted diarrhea with enterocyte brush-border GTR C0341306
STX3 https://ghr.nlm.nih.gov/gene/STX3 abnormalities db key
congenital microvillous atrophy MeSH D008286
html:p Davidson disease db key
familial protracted enteropathy OMIM 251850
intractable diarrhea of infancy db key
microvillous atrophy Orphanet 2290
microvillous inclusion disease db key
microvillus atrophy with diarrhea 2 SNOMED CT 235729009
MVID
html:p
html:p
related-gene-list
Miller-Dieker syndrome https://ghr.nlm.nih.gov/condition/miller-dieker-syndrome Miller-Dieker syndrome appears to be a rare disorder, although its html:p autosomal dominant PAFAH1B1 https://ghr.nlm.nih.gov/gene/PAFAH1B1 classical lissencephaly syndrome db key 2009-11 2017-12-29
prevalence is unknown. memo related-gene gene-symbol ghr-page MDS GTR C0265219
not inherited YWHAE https://ghr.nlm.nih.gov/gene/YWHAE Miller-Dieker lissencephaly syndrome db key
related-chromosome name ghr-page GeneReviews chrom17-lis
17 https://ghr.nlm.nih.gov/chromosome/17 db key
MeSH D054221
db key
OMIM 247200
db key
html:p Orphanet 531
db key
SNOMED CT 253148005
related-gene-list
Miller syndrome https://ghr.nlm.nih.gov/condition/miller-syndrome Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 html:p autosomal recessive DHODH https://ghr.nlm.nih.gov/gene/DHODH Genee-Wiedemann acrofacial dysostosis db key 2010-08 2017-12-29
in 1 million newborns. At least 30 cases have been reported in the medical Genee-Wiedemann syndrome GTR C0265257
literature. html:p postaxial acrofacial dysostosis (POADS) db key
MeSH D003394
db key
OMIM 263750
db key
Orphanet 246
html:p db key
SNOMED CT 66038001
html:p
html:p
related-gene-list
Milroy disease https://ghr.nlm.nih.gov/condition/milroy-disease Milroy disease is a rare disorder; its incidence is unknown. html:p autosomal dominant FLT4 https://ghr.nlm.nih.gov/gene/FLT4 congenital familial lymphedema db key 2013-04 2017-12-29
hereditary lymphedema type I GTR C1704423
Milroy's disease db key
Nonne-Milroy lymphedema GeneReviews milroy
db key
ICD-10-CM Q82.0
html:p db key
MeSH D008209
db key
OMIM 153100
db key
Orphanet 2416
db key
related-gene-list SNOMED CT 399889006
Mitochondrial complex I deficiency https://ghr.nlm.nih.gov/condition/mitochondrial-complex-i-deficiency Mitochondrial diseases are thought to occur in about 1 in 8,500 people. html:p autosomal recessive ACAD9 https://ghr.nlm.nih.gov/gene/ACAD9 NADH-coenzyme Q reductase deficiency db key 2017-11 2017-12-29
Mitochondrial complex I deficiency is the most common cause of mitochondrial memo related-gene gene-symbol ghr-page NADH:Q(1) oxidoreductase deficiency GTR C1838979
disease in children, accounting for approximately 30 percent of cases. mitochondrial ELAC2 https://ghr.nlm.nih.gov/gene/ELAC2 db key
memo related-gene gene-symbol ghr-page GeneReviews mt-overview
X-linked FOXRED1 https://ghr.nlm.nih.gov/gene/FOXRED1 db key
related-gene gene-symbol ghr-page MeSH D028361
html:p MT-ND1 https://ghr.nlm.nih.gov/gene/MT-ND1 db key
related-gene gene-symbol ghr-page OMIM 252010
MT-ND2 https://ghr.nlm.nih.gov/gene/MT-ND2 db key
related-gene gene-symbol ghr-page Orphanet 2609
html:p MT-ND3 https://ghr.nlm.nih.gov/gene/MT-ND3
related-gene gene-symbol ghr-page
MT-ND4 https://ghr.nlm.nih.gov/gene/MT-ND4
related-gene gene-symbol ghr-page
MT-ND4L https://ghr.nlm.nih.gov/gene/MT-ND4L
related-gene gene-symbol ghr-page
MT-ND5 https://ghr.nlm.nih.gov/gene/MT-ND5
related-gene gene-symbol ghr-page
MT-ND6 https://ghr.nlm.nih.gov/gene/MT-ND6
html:p related-gene gene-symbol ghr-page
MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1
related-gene gene-symbol ghr-page
MTFMT https://ghr.nlm.nih.gov/gene/MTFMT
html:p related-gene gene-symbol ghr-page
NDUFA1 https://ghr.nlm.nih.gov/gene/NDUFA1
related-gene gene-symbol ghr-page
NDUFA2 https://ghr.nlm.nih.gov/gene/NDUFA2
related-gene gene-symbol ghr-page
NDUFA9 https://ghr.nlm.nih.gov/gene/NDUFA9
related-gene gene-symbol ghr-page
NDUFA10 https://ghr.nlm.nih.gov/gene/NDUFA10
related-gene gene-symbol ghr-page
NDUFA11 https://ghr.nlm.nih.gov/gene/NDUFA11
related-gene gene-symbol ghr-page
NDUFA12 https://ghr.nlm.nih.gov/gene/NDUFA12
related-gene gene-symbol ghr-page
NDUFA13 https://ghr.nlm.nih.gov/gene/NDUFA13
related-gene gene-symbol ghr-page
NDUFAF1 https://ghr.nlm.nih.gov/gene/NDUFAF1
related-gene gene-symbol ghr-page
NDUFAF2 https://ghr.nlm.nih.gov/gene/NDUFAF2
related-gene gene-symbol ghr-page
NDUFAF3 https://ghr.nlm.nih.gov/gene/NDUFAF3
related-gene gene-symbol ghr-page
NDUFAF4 https://ghr.nlm.nih.gov/gene/NDUFAF4
related-gene gene-symbol ghr-page
NDUFAF5 https://ghr.nlm.nih.gov/gene/NDUFAF5
related-gene gene-symbol ghr-page
NDUFAF6 https://ghr.nlm.nih.gov/gene/NDUFAF6
related-gene gene-symbol ghr-page
NDUFB3 https://ghr.nlm.nih.gov/gene/NDUFB3
related-gene gene-symbol ghr-page
NDUFB9 https://ghr.nlm.nih.gov/gene/NDUFB9
related-gene gene-symbol ghr-page
NDUFB10 https://ghr.nlm.nih.gov/gene/NDUFB10
related-gene gene-symbol ghr-page
NDUFB11 https://ghr.nlm.nih.gov/gene/NDUFB11
related-gene gene-symbol ghr-page
NDUFS1 https://ghr.nlm.nih.gov/gene/NDUFS1
related-gene gene-symbol ghr-page
NDUFS2 https://ghr.nlm.nih.gov/gene/NDUFS2
related-gene gene-symbol ghr-page
NDUFS3 https://ghr.nlm.nih.gov/gene/NDUFS3
related-gene gene-symbol ghr-page
NDUFS4 https://ghr.nlm.nih.gov/gene/NDUFS4
related-gene gene-symbol ghr-page
NDUFS6 https://ghr.nlm.nih.gov/gene/NDUFS6
related-gene gene-symbol ghr-page
NDUFS7 https://ghr.nlm.nih.gov/gene/NDUFS7
related-gene gene-symbol ghr-page
NDUFS8 https://ghr.nlm.nih.gov/gene/NDUFS8
related-gene gene-symbol ghr-page
NDUFV1 https://ghr.nlm.nih.gov/gene/NDUFV1
related-gene gene-symbol ghr-page
NDUFV2 https://ghr.nlm.nih.gov/gene/NDUFV2
related-gene gene-symbol ghr-page
NUBPL https://ghr.nlm.nih.gov/gene/NUBPL
related-gene gene-symbol ghr-page
PPA2 https://ghr.nlm.nih.gov/gene/PPA2
related-gene gene-symbol ghr-page
TIMMDC1 https://ghr.nlm.nih.gov/gene/TIMMDC1
related-gene gene-symbol ghr-page
TMEM126B https://ghr.nlm.nih.gov/gene/TMEM126B
related-gene-list
Mitochondrial complex III deficiency https://ghr.nlm.nih.gov/condition/mitochondrial-complex-iii-deficiency The prevalence of mitochondrial complex III deficiency is unknown, although html:p autosomal recessive BCS1L https://ghr.nlm.nih.gov/gene/BCS1L isolated CoQ-cytochrome c reductase deficiency db key 2014-04 2017-12-29
the condition is thought to be rare. memo related-gene gene-symbol ghr-page ubiquinone-cytochrome c oxidoreductase deficiency GTR C1852372
mitochondrial CYC1 https://ghr.nlm.nih.gov/gene/CYC1 db key
related-gene gene-symbol ghr-page GTR C3554605
LYRM7 https://ghr.nlm.nih.gov/gene/LYRM7 db key
html:p related-gene gene-symbol ghr-page GTR C3554606
MT-CYB https://ghr.nlm.nih.gov/gene/MT-CYB db key
related-gene gene-symbol ghr-page GTR C3554607
TTC19 https://ghr.nlm.nih.gov/gene/TTC19 db key
related-gene gene-symbol ghr-page GTR C3554608
UQCC2 https://ghr.nlm.nih.gov/gene/UQCC2 db key
related-gene gene-symbol ghr-page GTR C3809553
UQCRB https://ghr.nlm.nih.gov/gene/UQCRB db key
related-gene gene-symbol ghr-page GTR C4014408
UQCRC2 https://ghr.nlm.nih.gov/gene/UQCRC2 db key
related-gene gene-symbol ghr-page GTR C4014440
UQCRQ https://ghr.nlm.nih.gov/gene/UQCRQ db key
related-mitochondrial-dna name ghr-page GeneReviews mt-overview
mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
MeSH D028361
html:p db key
OMIM 124000
db key
OMIM 615157
db key
OMIM 615158
db key
OMIM 615159
db key
OMIM 615160
db key
OMIM 615453
db key
related-gene-list SNOMED CT 709414007
Mitochondrial complex V deficiency https://ghr.nlm.nih.gov/condition/mitochondrial-complex-v-deficiency The prevalence of mitochondrial complex V deficiency is unknown. html:p autosomal recessive ATP5F1A https://ghr.nlm.nih.gov/gene/ATP5F1A ATP synthase deficiency db key 2017-11 2017-12-29
Researchers suggest that the condition may be underdiagnosed because affected memo related-gene gene-symbol ghr-page GeneReviews mt-overview
individuals can have a wide variety of features that are not specific to this mitochondrial ATP5F1E https://ghr.nlm.nih.gov/gene/ATP5F1E db key
condition. related-gene gene-symbol ghr-page MeSH D028361
ATPAF2 https://ghr.nlm.nih.gov/gene/ATPAF2 db key
related-gene gene-symbol ghr-page OMIM 604273
html:p MT-ATP6 https://ghr.nlm.nih.gov/gene/MT-ATP6 db key
related-gene gene-symbol ghr-page OMIM 614052
MT-ATP8 https://ghr.nlm.nih.gov/gene/MT-ATP8 db key
related-gene gene-symbol ghr-page OMIM 614053
TMEM70 https://ghr.nlm.nih.gov/gene/TMEM70 db key
OMIM 615228
db key
Orphanet 1194
db key
SNOMED CT 237992004
html:p
html:p
html:p
related-gene-list
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosi The exact incidence of MELAS is unknown. It is one of the more common html:p mitochondrial MT-ND1 https://ghr.nlm.nih.gov/gene/MT-ND1 MELAS db key 2013-12 2017-12-29
s-and-stroke-like-episodes conditions in a group known as mitochondrial diseases. Together, mitochondrial related-gene gene-symbol ghr-page MELAS syndrome GTR C0162671
diseases occur in about 1 in 4,000 people. MT-ND5 https://ghr.nlm.nih.gov/gene/MT-ND5 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like db key
related-gene gene-symbol ghr-page episodes GeneReviews melas
MT-TH https://ghr.nlm.nih.gov/gene/MT-TH mitochondrial myopathy, lactic acidosis, stroke-like episode db key
related-gene gene-symbol ghr-page myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke GeneReviews mt-overview
MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1 db key
related-gene gene-symbol ghr-page ICD-10-CM E88.41
MT-TV https://ghr.nlm.nih.gov/gene/MT-TV db key
related-mitochondrial-dna name ghr-page MeSH D017241
mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
OMIM 540000
html:p db key
Orphanet 550
db key
SNOMED CT 39925003
related-gene-list
Mitochondrial membrane protein-associated neurodegeneration https://ghr.nlm.nih.gov/condition/mitochondrial-membrane-protein-associated-neur MPAN is a rare condition that is estimated to affect less than 1 in 1 html:p autosomal recessive C19orf12 https://ghr.nlm.nih.gov/gene/C19orf12 mitochondrial membrane protein-associated neurodegeneration due to C19orf12 db key 2017-01 2017-12-29
odegeneration million people. mutation GTR C3280371
mitochondrial protein-associated neurodegeneration db key
html:p MPAN GeneReviews mt-mpan
NBIA4 db key
neurodegeneration with brain iron accumulation 4 GeneReviews nbia-ov
db key
MeSH D019150
db key
OMIM 614298
html:p db key
Orphanet 289560
db key
SNOMED CT 709415008
html:p
related-gene-list
Mitochondrial neurogastrointestinal encephalopathy disease https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalop The prevalence of MNGIE disease is unknown. About 70 people with this html:p autosomal recessive TYMP https://ghr.nlm.nih.gov/gene/TYMP MEPOP db key 2008-06 2017-12-29
athy-disease disorder have been reported. Mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and GTR C0872218
pseudo-obstruction db key
Mitochondrial neurogastrointestinal encephalopathy syndrome GeneReviews mngie
MNGIE disease db key
html:p MNGIE syndrome ICD-10-CM E88.49
Myoneurogastrointestinal encephalopathy syndrome db key
Oculogastrointestinal muscular dystrophy MeSH D028361
OGIMD db key
POLIP OMIM 603041
Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal db key
pseudo-obstruction Orphanet 298
Thymidine phosphorylase deficiency db key
SNOMED CT 124273008
html:p
related-gene-list
Mitochondrial trifunctional protein deficiency https://ghr.nlm.nih.gov/condition/mitochondrial-trifunctional-protein-deficiency Mitochondrial trifunctional protein deficiency is a rare disorder; its html:p autosomal recessive HADHA https://ghr.nlm.nih.gov/gene/HADHA MTP deficiency db key 2013-05 2017-12-29
incidence is unknown. related-gene gene-symbol ghr-page TFP deficiency GTR C0342786
HADHB https://ghr.nlm.nih.gov/gene/HADHB TPA deficiency db key
html:p trifunctional protein deficiency, type 2 MeSH D008052
db key
OMIM 609015
db key
Orphanet 746
db key
SNOMED CT 237999008
html:p
related-gene-list
Miyoshi myopathy https://ghr.nlm.nih.gov/condition/miyoshi-myopathy The exact prevalence of Miyoshi myopathy is unknown. In Japan, where the html:p autosomal recessive ANO5 https://ghr.nlm.nih.gov/gene/ANO5 distal muscular dystrophy, Miyoshi type db key 2016-12 2017-12-29
condition was first described, it is estimated to affect 1 in 440,000 related-gene gene-symbol ghr-page Miyoshi distal myopathy GTR C1850808
individuals. DYSF https://ghr.nlm.nih.gov/gene/DYSF Miyoshi muscular dystrophy db key
MMD GTR C2750076
db key
GeneReviews ano5-md
html:p db key
GeneReviews miyoshi
db key
MeSH D049310
db key
html:p OMIM 254130
db key
OMIM 613319
db key
Orphanet 45448
db key
synonym-list db-key-list SNOMED CT 111506000
Moebius syndrome https://ghr.nlm.nih.gov/condition/moebius-syndrome The exact incidence of Moebius syndrome is unknown. Researchers estimate html:p pattern unknown synonym congenital ophthalmoplegia and facial paresis key 2017-12-29
that the condition affects 1 in 50,000 to 1 in 500,000 newborns. synonym Mobius syndrome db-key C0221060
synonym Moebius congenital oculofacial paralysis key
html:p synonym Moebius sequence db-key D020331
synonym Moebius spectrum key
synonym Möbius sequence db-key 157900
key
html:p db-key 570
key
89444000
html:p
html:p
html:p
related-gene-list
Molybdenum cofactor deficiency https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency Molybdenum cofactor deficiency is a rare condition that is estimated to html:p autosomal recessive GPHN https://ghr.nlm.nih.gov/gene/GPHN combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde db key 2014-03 2017-12-29
occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have related-gene gene-symbol ghr-page oxidase GTR C0268119
been reported in the medical literature, although it is thought that the MOCS1 https://ghr.nlm.nih.gov/gene/MOCS1 combined molybdoflavoprotein enzyme deficiency db key
condition is underdiagnosed, so the number of affected individuals may be related-gene gene-symbol ghr-page combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency GTR C1854988
higher. MOCS2 https://ghr.nlm.nih.gov/gene/MOCS2 deficiency of molybdenum cofactor db key
MOCOD GTR C1854989
db key
GTR C1854990
db key
MeSH D020739
html:p db key
OMIM 252150
db key
html:p OMIM 252160
db key
OMIM 615501
db key
Orphanet 99732
db key
related-gene-list SNOMED CT 29692004
Monilethrix https://ghr.nlm.nih.gov/condition/monilethrix The prevalence of monilethrix is unknown. html:p autosomal dominant DSG4 https://ghr.nlm.nih.gov/gene/DSG4 beaded hair db key 2012-03 2017-12-29
memo related-gene gene-symbol ghr-page GTR C0546966
autosomal recessive KRT81 https://ghr.nlm.nih.gov/gene/KRT81 db key
related-gene gene-symbol ghr-page MeSH D056734
KRT83 https://ghr.nlm.nih.gov/gene/KRT83 db key
related-gene gene-symbol ghr-page OMIM 158000
KRT86 https://ghr.nlm.nih.gov/gene/KRT86 db key
html:p Orphanet 573
db key
SNOMED CT 69488000
html:p
related-gene-list
Monoamine oxidase A deficiency https://ghr.nlm.nih.gov/condition/monoamine-oxidase-a-deficiency Monoamine oxidase A deficiency is thought to be very rare. Its prevalence html:p X-linked recessive MAOA https://ghr.nlm.nih.gov/gene/MAOA Brunner syndrome db key 2017-05 2017-12-29
is unknown. deficiency of monoamine oxidase A GTR C0796275
X-linked monoamine oxidase deficiency db key
html:p MeSH D008607
db key
MeSH D040181
db key
OMIM 300615
db key
Orphanet 3057
html:p db key
SNOMED CT 718210003
html:p
related-gene-list
Mosaic variegated aneuploidy syndrome https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome MVA syndrome is a rare condition. Its prevalence is unknown. html:p autosomal recessive BUB1B https://ghr.nlm.nih.gov/gene/BUB1B mosaic variegated aneuplody microcephaly syndrome db key 2017-07 2017-12-29
related-gene gene-symbol ghr-page MVA syndrome GTR C1850343
CEP57 https://ghr.nlm.nih.gov/gene/CEP57 Warburton-Anyane-Yeboa syndrome db key
related-gene gene-symbol ghr-page GTR C3279843
TRIP13 https://ghr.nlm.nih.gov/gene/TRIP13 db key
MeSH D000782
db key
OMIM 257300
db key
html:p OMIM 614114
db key
Orphanet 1052
db key
SNOMED CT 700056005
html:p
html:p
related-gene-list
Mowat-Wilson syndrome https://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome The prevalence of Mowat-Wilson syndrome is unknown. More than 200 people html:p autosomal dominant ZEB2 https://ghr.nlm.nih.gov/gene/ZEB2 Hirschsprung disease-mental retardation syndrome db key 2015-06 2017-12-29
with this condition have been reported in the medical literature. microcephaly, mental retardation, and distinct facial features, with or without GTR C1856113
Hirschsprung disease db key
MWS GeneReviews mws
html:p db key
MeSH D000015
db key
MeSH D006627
db key
OMIM 235730
db key
Orphanet 2152
html:p db key
SNOMED CT 703535000
html:p
html:p
related-gene-list
Moyamoya disease https://ghr.nlm.nih.gov/condition/moyamoya-disease Moyamoya disease was first identified in Japan, where it is most prevalent, html:p autosomal dominant RNF213 https://ghr.nlm.nih.gov/gene/RNF213 cerebrovascular moyamoya disease db key 2017-10 2017-12-29
affecting about 5 in 100,000 individuals. The condition is also relatively memo moya-moya disease GTR C0026654
common in other Asian populations. It is ten times less common in Europe. In the pattern unknown progressive intracranial arterial occlusion db key
United States, Asian Americans are four times more commonly affected than progressive intracranial occlusive arteropathy GTR C1837418
whites. For unknown reasons, moyamoya disease occurs twice as often in females spontaneous occlusion of the Circle of Willis db key
as in males. GTR C1846689
db key
GTR C3279690
html:p db key
ICD-10-CM I67.5
db key
MeSH D009072
db key
OMIM 252350
db key
OMIM 607151
db key
html:p OMIM 608796
db key
OMIM 614042
db key
Orphanet 2573
db key
inheritance-pattern-list related-gene-list SNOMED CT 69116000
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is html:p ar autosomal recessive ghr-page mitochondrial DNA depletion syndrome 6 db-key db key 2013-01 2017-12-29
-depletion-syndrome thought to be a rare condition. Approximately 30 cases have been described in https://ghr.nlm.nih.gov/gene/MPV17 MPV17-associated hepatocerebral MDS GTR C1850406
the scientific literature, including seven families with Navajo MTDPS6 db-key db key
neurohepatopathy. Within the Navajo Nation of the southwestern United States, Navajo familial neurogenic arthropathy GeneReviews mpv17-mtdep
Navajo neurohepatopathy is estimated to occur in 1 in 1,600 newborns. Navajo neurohepatopathy db-key db key
Navajo neuropathy MeSH D028361
NNH db-key db key
OMIM 256810
db-key db key
Orphanet 255229
db-key db key
SNOMED CT 237995002
html:p
related-gene-list
Muckle-Wells syndrome https://ghr.nlm.nih.gov/condition/muckle-wells-syndrome Muckle-Wells syndrome is a rare disorder. It has been reported in many html:p autosomal dominant NLRP3 https://ghr.nlm.nih.gov/gene/NLRP3 familial amyloid nephropathy with urticaria and deafness db key 2008-09 2017-12-29
regions of the world, but its prevalence is unknown. MWS GTR C0268390
UDA syndrome db key
html:p urticaria-deafness-amyloidosis syndrome MeSH D056587
db key
OMIM 191900
db key
Orphanet 575
html:p db key
SNOMED CT 15123008
related-gene-list
Mucolipidosis II alpha/beta https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta Mucolipidosis II alpha/beta is a rare disorder, although its exact html:p autosomal recessive GNPTAB https://ghr.nlm.nih.gov/gene/GNPTAB I-cell disease db key 2015-05 2017-12-29
prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 inclusion cell disease GTR C2673377
individuals worldwide. MLII db key
html:p mucolipidosis II GeneReviews ml2
mucolipidosis type II db key
ICD-10-CM E77.0
db key
MeSH D009081
html:p db key
OMIM 252500
db key
Orphanet 576
db key
SNOMED CT 70199000
html:p
related-gene-list
Mucolipidosis III alpha/beta https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta Mucolipidosis III alpha/beta is a rare disorder, although its exact html:p autosomal recessive GNPTAB https://ghr.nlm.nih.gov/gene/GNPTAB ML III db key 2014-10 2017-12-29
prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 ML IIIA GTR C0033788
individuals worldwide. mucolipidosis III db key
html:p mucolipidosis III, variant GeneReviews ml3a
mucolipidosis IIIA db key
pseudo-Hurler polydystrophy ICD-10-CM E77.0
db key
MeSH D009081
db key
OMIM 252600
html:p db key
Orphanet 577
db key
SNOMED CT 65764006
related-gene-list
Mucolipidosis III gamma https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-gamma Mucolipidosis III gamma is a rare disorder, although its exact prevalence html:p autosomal recessive GNPTG https://ghr.nlm.nih.gov/gene/GNPTG ML IIIC db key 2015-05 2017-12-29
is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 mucolipidosis III GTR C1854896
individuals worldwide. mucolipidosis III, variant db key
html:p mucolipidosis IIIC GeneReviews ml3c
mucolipidosis type III db key
pseudo-Hurler polydystrophy ICD-10-CM E77.0
db key
MeSH D009081
db key
html:p OMIM 252605
db key
Orphanet 577
db key
SNOMED CT 65764006
related-gene-list
Mucolipidosis type IV https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 html:p autosomal recessive MCOLN1 https://ghr.nlm.nih.gov/gene/MCOLN1 ganglioside sialidase deficiency db key 2013-08 2017-12-29
percent of affected individuals have Ashkenazi Jewish ancestry. ML4 GTR C0238286
MLIV db key
sialolipidosis GeneReviews ml4
html:p db key
ICD-10-CM E75.11
db key
MeSH D009081
db key
OMIM 252650
db key
Orphanet 578
db key
SNOMED CT 111384001
html:p
html:p
html:p
related-gene-list
Mucopolysaccharidosis type I https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS html:p autosomal recessive IDUA https://ghr.nlm.nih.gov/gene/IDUA Hurler-Scheie syndrome db key 2012-12 2017-12-29
I is less common and occurs in about 1 in 500,000 newborns. Hurler syndrome GTR C0023786
IDUA deficiency db key
MPS I GeneReviews mps1
MPS I H db key
MPS I H-S ICD-10-CM E76.0
html:p MPS I S db key
mucopolysaccharidosis I ICD-10-CM E76.01
Scheie syndrome db key
ICD-10-CM E76.02
db key
ICD-10-CM E76.03
html:p db key
MeSH D008059
db key
OMIM 607014
db key
OMIM 607015
db key
html:p OMIM 607016
db key
Orphanet 579
html:p db key
SNOMED CT 26745009
db key
SNOMED CT 73123008
db key
SNOMED CT 75610003
html:p
related-gene-list
Mucopolysaccharidosis type II https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males. html:p X-linked recessive IDS https://ghr.nlm.nih.gov/gene/IDS Hunter Syndrome db key 2008-12 2017-12-29
I2S deficiency GTR C0026705
Iduronate 2-sulfatase deficiency db key
MPS II GeneReviews hunter
html:p db key
ICD-10-CM E76.1
db key
MeSH D016532
db key
OMIM 309900
db key
html:p Orphanet 580
db key
SNOMED CT 5667009
db key
SNOMED CT 70737009
db key
SNOMED CT 73146005
html:p
html:p
related-gene-list
Mucopolysaccharidosis type III https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii MPS III is the most common form of mucopolysaccharidosis; the estimated html:p autosomal recessive GNS https://ghr.nlm.nih.gov/gene/GNS MPS III db key 2017-03 2017-12-29
incidence of all four types combined is 1 in 70,000 newborns. MPS IIIA and MPS related-gene gene-symbol ghr-page mucopolysaccharidosis III GTR C0086647
IIIB are much more common than MPS IIIC and MPS IIID. HGSNAT https://ghr.nlm.nih.gov/gene/HGSNAT Sanfilippo syndrome db key
html:p related-gene gene-symbol ghr-page GTR C0086648
NAGLU https://ghr.nlm.nih.gov/gene/NAGLU db key
related-gene gene-symbol ghr-page GTR C0086649
SGSH https://ghr.nlm.nih.gov/gene/SGSH db key
GTR C0086650
db key
ICD-10-CM E76.22
db key
MeSH D009084
db key
html:p OMIM 252900
db key
OMIM 252920
db key
OMIM 252930
db key
OMIM 252940
db key
Orphanet 581
html:p db key
SNOMED CT 15892005
db key
SNOMED CT 41572006
db key
SNOMED CT 59990008
db key
SNOMED CT 75238000
db key
related-gene-list SNOMED CT 88393000
Mucopolysaccharidosis type IV https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv The exact prevalence of MPS IV is unknown, although it is estimated to html:p autosomal recessive GALNS https://ghr.nlm.nih.gov/gene/GALNS Morquio-Brailsford disease db key 2010-07 2017-12-29
occur in 1 in 200,000 to 300,000 individuals. related-gene gene-symbol ghr-page Morquio Disease GTR C0026707
GLB1 https://ghr.nlm.nih.gov/gene/GLB1 Morquio Syndrome db key
html:p Morquio's Disease GTR C0086651
Morquio's Syndrome db key
MPS IV GTR C0086652
mucopolysaccharidosis (MPS) IV (A, B) db key
ICD-10-CM E76.21
db key
ICD-10-CM E76.210
db key
ICD-10-CM E76.211
db key
ICD-10-CM E76.219
html:p db key
MeSH D009085
db key
OMIM 253000
db key
OMIM 253010
db key
Orphanet 582
db key
SNOMED CT 130197005
html:p db key
SNOMED CT 238044004
db key
SNOMED CT 378007
db key
SNOMED CT 7259005
related-gene-list
Mucopolysaccharidosis type VI https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi The exact incidence of MPS VI is unknown, although it is estimated to occur html:p autosomal recessive ARSB https://ghr.nlm.nih.gov/gene/ARSB Arylsulfatase B deficiency db key 2010-06 2017-12-29
in 1 in 250,000 to 600,000 newborns. Maroteaux-Lamy Syndrome GTR C0026709
MPS VI db key
MPS6 MeSH D009087
html:p Mucopolysaccharidosis 6 db key
Mucopolysaccharidosis VI OMIM 253200
Polydystrophic Dwarfism db key
Orphanet 583
db key
SNOMED CT 52677002
html:p
html:p
related-gene-list
Mucopolysaccharidosis type VII https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii The exact incidence of MPS VII is unknown, although it is estimated to html:p autosomal recessive GUSB https://ghr.nlm.nih.gov/gene/GUSB beta-glucuronidase deficiency db key 2010-08 2017-12-29
occur in 1 in 250,000 newborns. It is one of the rarest types of GUSB deficiency GTR C0085132
mucopolysaccharidosis. MPS VII db key
html:p MPS7 MeSH D016538
Mucopolysaccharidosis 7 db key
Mucopolysaccharidosis VII OMIM 253220
Sly Syndrome db key
Orphanet 584
db key
SNOMED CT 124470009
db key
SNOMED CT 43916004
html:p
html:p
related-gene-list
Muenke syndrome https://ghr.nlm.nih.gov/condition/muenke-syndrome Muenke syndrome occurs in about 1 in 30,000 newborns. This condition html:p autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 FGFR3-associated coronal synostosis db key 2006-06 2017-12-29
accounts for an estimated 8 percent of all cases of craniosynostosis. Muenke nonsyndromic coronal craniosynostosis GTR C1864436
db key
html:p GeneReviews craniosynostosis
db key
GeneReviews muenke
db key
MeSH D003398
db key
OMIM 602849
db key
Orphanet 53271
html:p db key
SNOMED CT 440350001
related-gene-list
Müllerian aplasia and hyperandrogenism https://ghr.nlm.nih.gov/condition/mullerian-aplasia-and-hyperandrogenism Müllerian aplasia and hyperandrogenism is a very rare disorder; it has been html:p autosomal dominant WNT4 https://ghr.nlm.nih.gov/gene/WNT4 Biason-Lauber syndrome db key 2014-07 2017-12-29
identified in only a few individuals worldwide. Mayer-Rokitansky-Küster-Hauser-Biason-Lauber syndrome GTR C2675014
Mayer-Rokitansky-Küster-Hauser-like syndrome db key
Mullerian aplasia and hyperandrogenism MeSH D058489
Müllerian duct failure db key
WNT4 deficiency OMIM 158330
WNT4 Müllerian aplasia db key
WNT4 Müllerian aplasia and ovarian dysfunction Orphanet 247768
db key
SNOMED CT 699275001
html:p
related-gene-list
Multicentric osteolysis, nodulosis, and arthropathy https://ghr.nlm.nih.gov/condition/multicentric-osteolysis-nodulosis-and-arthropa MONA is rare; its prevalence is unknown. This condition has been reported html:p autosomal recessive MMP2 https://ghr.nlm.nih.gov/gene/MMP2 Al-Aqeel Sewairi syndrome db key 2013-11 2017-12-29
thy in multiple populations worldwide. hereditary multicentric osteolysis GTR C1850155
MONA db key
NAO syndrome GTR CN239151
nodulosis-arthropathy-osteolysis syndrome db key
Torg syndrome GeneReviews mona
Torg-Winchester syndrome db key
html:p MeSH D010014
db key
OMIM 259600
db key
Orphanet 3460
db key
Orphanet 85196
html:p db key
SNOMED CT 254151006
db key
SNOMED CT 254152004
related-gene-list
Multiminicore disease https://ghr.nlm.nih.gov/condition/multiminicore-disease Multiminicore disease is thought to be a rare disorder, although its html:p autosomal recessive RYR1 https://ghr.nlm.nih.gov/gene/RYR1 Minicore disease db key 2007-10 2017-12-29
incidence is unknown. related-gene gene-symbol ghr-page Minicore myopathy GTR C1843691
SELENON https://ghr.nlm.nih.gov/gene/SELENON MmD db key
html:p Multi-minicore disease GTR C1850674
Multicore disease db key
Multicore myopathy GTR C2673970
Multiminicore myopathy db key
GTR CN221543
db key
GTR CN221587
db key
GeneReviews mmd
db key
MeSH D009135
db key
html:p OMIM 255320
db key
OMIM 602771
db key
Orphanet 598
db key
SNOMED CT 55133004
html:p
html:p
related-gene-list
Multiple cutaneous and mucosal venous malformations https://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malforma VMCM appears to be a rare disorder, although its prevalence is unknown. html:p autosomal dominant TEK https://ghr.nlm.nih.gov/gene/TEK mucocutaneous venous malformations db key 2009-08 2017-12-29
tions VMCM GTR C1838437
VMCM1 db key
GeneReviews vmcm
db key
MeSH D017445
db key
html:p OMIM 600195
db key
Orphanet 2451
db key
SNOMED CT 699301008
related-gene-list
Multiple endocrine neoplasia https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; html:p autosomal dominant CDKN1B https://ghr.nlm.nih.gov/gene/CDKN1B adenomatosis, familial endocrine db key 2017-03 2017-12-29
multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. related-gene gene-symbol ghr-page endocrine neoplasia, multiple GTR C0025267
Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. MEN1 https://ghr.nlm.nih.gov/gene/MEN1 familial endocrine adenomatosis db key
Type 2B is relatively uncommon, accounting for about 5 percent of all cases of related-gene gene-symbol ghr-page MEA GTR C0025268
type 2. The prevalence of multiple endocrine neoplasia type 4 is unknown, RET https://ghr.nlm.nih.gov/gene/RET MEN db key
although the condition appears to be rare. multiple endocrine adenomatosis GTR C0025269
multiple endocrine neoplasms db key
GTR C1833921
html:p db key
GTR C1970712
db key
html:p GeneReviews men1
db key
GeneReviews men2
db key
ICD-10-CM E31.2
db key
ICD-10-CM E31.20
db key
html:p ICD-10-CM E31.21
db key
ICD-10-CM E31.22
db key
ICD-10-CM E31.23
db key
ICD-10-CM Z15.81
db key
ICD-10-CM Z83.41
db key
html:p MeSH D009377
db key
OMIM 131100
db key
OMIM 155240
db key
OMIM 162300
db key
OMIM 171400
db key
OMIM 610755
db key
Orphanet 652
db key
Orphanet 653
db key
Orphanet 247698
db key
Orphanet 247709
db key
Orphanet 276152
db key
Orphanet 276161
db key
SNOMED CT 30664006
db key
SNOMED CT 46724008
db key
SNOMED CT 61530001
db key
related-gene-list SNOMED CT 61808009
Multiple epiphyseal dysplasia https://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia The incidence of dominant multiple epiphyseal dysplasia is estimated to be html:p autosomal dominant COL9A1 https://ghr.nlm.nih.gov/gene/COL9A1 EDM1 db key 2014-11 2017-12-29
at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal memo related-gene gene-symbol ghr-page EDM2 GTR C1832998
dysplasia is unknown. Both forms of this disorder may actually be more common autosomal recessive COL9A2 https://ghr.nlm.nih.gov/gene/COL9A2 EDM3 db key
because some people with mild symptoms are never diagnosed. related-gene gene-symbol ghr-page EDM4 GTR C1838280
COL9A3 https://ghr.nlm.nih.gov/gene/COL9A3 EDM5 db key
related-gene gene-symbol ghr-page epiphyseal dysplasia, Fairbank type GTR C1838429
COMP https://ghr.nlm.nih.gov/gene/COMP epiphyseal dysplasia, multiple, 1 db key
related-gene gene-symbol ghr-page epiphyseal dysplasia, multiple, 2 GTR C1846843
MATN3 https://ghr.nlm.nih.gov/gene/MATN3 epiphyseal dysplasia, multiple, 3 db key
related-gene gene-symbol ghr-page epiphyseal dysplasia, multiple, 4 GTR C1847593
html:p SLC26A2 https://ghr.nlm.nih.gov/gene/SLC26A2 epiphyseal dysplasia, multiple, 5 db key
epiphyseal dysplasia, Ribbing type GTR C2675767
MED db key
multiple epiphyseal dysplasia, autosomal dominant GeneReviews edm
multiple epiphyseal dysplasia, autosomal recessive db key
rMED GeneReviews edm-ad
db key
MeSH D010009
db key
OMIM 120210
db key
OMIM 132400
db key
OMIM 226900
db key
OMIM 600204
db key
OMIM 600969
db key
OMIM 607078
db key
Orphanet 251
db key
SNOMED CT 313339007
db key
related-gene-list SNOMED CT 59708000
Multiple familial trichoepithelioma https://ghr.nlm.nih.gov/condition/multiple-familial-trichoepithelioma Multiple familial trichoepithelioma is a rare disorder; its prevalence is html:p autosomal dominant CYLD https://ghr.nlm.nih.gov/gene/CYLD Brooke-Fordyce trichoepitheliomas db key 2012-06 2017-12-29
unknown. EAC GTR C1275122
epithelioma adenoides cysticum of Brooke db key
familial multiple trichoepitheliomata GTR C2677505
hereditary multiple benign cystic epithelioma db key
MFT MeSH D012878
db key
html:p OMIM 601606
db key
OMIM 612099
db key
Orphanet 867
db key
SNOMED CT 403825008
html:p
html:p
related-gene-list
Multiple mitochondrial dysfunctions syndrome https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome Multiple mitochondrial dysfunctions syndrome is a rare condition; its html:p autosomal recessive BOLA3 https://ghr.nlm.nih.gov/gene/BOLA3 MMDS db key 2015-05 2017-12-29
prevalence is unknown. It is one of several conditions classified as related-gene gene-symbol ghr-page multiple mitochondrial dysfunction syndrome GTR C3276432
mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide. NFU1 https://ghr.nlm.nih.gov/gene/NFU1 db key
GTR C3280378
db key
GTR C3809165
db key
html:p GeneReviews mt-overview
db key
MeSH D028361
db key
OMIM 605711
db key
OMIM 614299
db key
OMIM 615330
db key
Orphanet 289573
db key
related-gene-list SNOMED CT 720827002
Multiple myeloma https://ghr.nlm.nih.gov/condition/multiple-myeloma Multiple myeloma is considered a rare cancer; it accounts for about 10 html:p not inherited BRAF https://ghr.nlm.nih.gov/gene/BRAF Kahler-Bozzolo disease db key 2016-05 2017-12-29
percent of cancers of the blood and blood-forming tissues, and between one and memo related-gene gene-symbol ghr-page Kahler disease GTR C0026764
two percent of all cancers. Multiple myeloma occurs in approximately 4 per pattern unknown CCND1 https://ghr.nlm.nih.gov/gene/CCND1 Kahler's disease db key
100,000 people per year; there are currently about 100,000 affected individuals related-gene gene-symbol ghr-page medullary plasmacytoma GTR CN186214
in the United States. FCRL4 https://ghr.nlm.nih.gov/gene/FCRL4 myelomatosis db key
html:p related-gene gene-symbol ghr-page plasma cell dyscrasia ICD-10-CM C90.0
FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 plasma cell myelomas db key
related-gene gene-symbol ghr-page ICD-10-CM C90.00
IRF4 https://ghr.nlm.nih.gov/gene/IRF4 db key
related-gene gene-symbol ghr-page ICD-10-CM C90.01
LIG4 https://ghr.nlm.nih.gov/gene/LIG4 db key
related-gene gene-symbol ghr-page ICD-10-CM C90.02
MAF https://ghr.nlm.nih.gov/gene/MAF db key
related-gene gene-symbol ghr-page MeSH D009101
MUM1 https://ghr.nlm.nih.gov/gene/MUM1 db key
html:p related-chromosome name ghr-page OMIM 254500
14 https://ghr.nlm.nih.gov/chromosome/14 db key
Orphanet 29073
db key
SNOMED CT 109989006
html:p
related-gene-list
Multiple pterygium syndrome https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome The prevalence of multiple pterygium syndrome is unknown. html:p autosomal recessive CHRNA1 https://ghr.nlm.nih.gov/gene/CHRNA1 Escobar syndrome db key 2011-11 2017-12-29
related-gene gene-symbol ghr-page familial pterygium syndrome GTR C0265261
CHRND https://ghr.nlm.nih.gov/gene/CHRND pterygium syndrome db key
related-gene gene-symbol ghr-page GTR C1854678
CHRNG https://ghr.nlm.nih.gov/gene/CHRNG db key
related-gene gene-symbol ghr-page MeSH D012873
html:p RAPSN https://ghr.nlm.nih.gov/gene/RAPSN db key
OMIM 253290
db key
OMIM 265000
html:p db key
Orphanet 2990
db key
Orphanet 33108
db key
SNOMED CT 205819008
db key
SNOMED CT 60192008
db key
SNOMED CT 80773006
html:p
related-gene-list
Multiple sclerosis https://ghr.nlm.nih.gov/condition/multiple-sclerosis An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. html:p pattern unknown CYP27B1 https://ghr.nlm.nih.gov/gene/CYP27B1 disseminated sclerosis db key 2015-10 2017-12-29
Although the reason is unclear, this condition is more common in regions that related-gene gene-symbol ghr-page MS GTR CN031763
are farther away from the equator. In Canada, parts of the northern United HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 db key
States, western and northern Europe, Russia, and southeastern Australia, the related-gene gene-symbol ghr-page ICD-10-CM G35
condition affects approximately 1 in 2,000 to 2,400 people. It is less common IL2RA https://ghr.nlm.nih.gov/gene/IL2RA db key
closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South related-gene gene-symbol ghr-page MeSH D009103
America, where about 1 in 20,000 people are affected. For unknown reasons, most IL7R https://ghr.nlm.nih.gov/gene/IL7R db key
forms of multiple sclerosis affect women twice as often as men; however, women html:p related-gene gene-symbol ghr-page Orphanet 802
and men are equally affected by primary progressive MS. TNFRSF1A https://ghr.nlm.nih.gov/gene/TNFRSF1A db key
SNOMED CT 192928003
db key
SNOMED CT 24700007
html:p
html:p
html:p
related-gene-list
Multiple sulfatase deficiency https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency Multiple sulfatase deficiency is estimated to occur in 1 per million html:p autosomal recessive SUMF1 https://ghr.nlm.nih.gov/gene/SUMF1 Austin syndrome db key 2014-07 2017-12-29
individuals worldwide. Approximately 50 cases have been reported in the juvenile sulfatidosis, Austin type GTR C0268263
scientific literature. MSD db key
mucosulfatidosis MeSH D052517
html:p db key
OMIM 272200
db key
Orphanet 585
db key
SNOMED CT 54898003
html:p
html:p
html:p
related-gene-list
Multiple system atrophy https://ghr.nlm.nih.gov/condition/multiple-system-atrophy Multiple system atrophy has a prevalence of 2 to 5 per 100,000 people. html:p pattern unknown COQ2 https://ghr.nlm.nih.gov/gene/COQ2 MSA db key 2016-07 2017-12-29
related-gene gene-symbol ghr-page OPCA GTR C0037019
SNCA https://ghr.nlm.nih.gov/gene/SNCA progressive autonomic failure with multiple system atrophy db key
SDS ICD-10-CM G90.3
Shy-Drager syndrome db key
sporadic olivopontocerebellar atrophy MeSH D019578
db key
html:p OMIM 146500
db key
Orphanet 102
db key
Orphanet 227510
db key
Orphanet 98933
db key
SNOMED CT 16576004
html:p db key
SNOMED CT 230297002
synonym-list db-key-list
Myasthenia gravis https://ghr.nlm.nih.gov/condition/myasthenia-gravis Myasthenia gravis affects about 20 per 100,000 people worldwide. The html:p pattern unknown key 2017-12-29
prevalence has been increasing in recent decades, which likely results from db-key C0026896
earlier diagnosis and better treatments leading to longer lifespans for affected key
individuals. db-key C1846838
key
db-key G70.00
key
db-key G70.01
key
db-key P94.0
html:p key
db-key D009157
key
db-key 159400
key
html:p db-key 254200
key
db-key 607085
key
db-key 589
key
91637004
html:p
synonym-list db-key-list
Mycosis fungoides https://ghr.nlm.nih.gov/condition/mycosis-fungoides Mycosis fungoides occurs in about 1 in 100,000 to 350,000 individuals. It html:p not inherited synonym granuloma fungoides key 2017-12-29
accounts for approximately 70 percent of cutaneous T-cell lymphomas. For unknown memo db-key C0026948
reasons, mycosis fungoides affects males nearly twice as often as females. In pattern unknown key
the United States, there are an estimated 3.6 cases per million people each db-key C84.0
year. The condition has been found in regions around the world. key
db-key C84.00
html:p key
db-key C84.01
key
db-key C84.02
key
db-key C84.03
key
db-key C84.04
key
db-key C84.05
html:p key
db-key C84.06
key
db-key C84.07
key
db-key C84.08
html:p key
db-key C84.09
key
db-key D009182
key
db-key 254400
html:p key
db-key 2584
key
118618005
inheritance-pattern-list
MyD88 deficiency https://ghr.nlm.nih.gov/condition/myd88-deficiency The prevalence of MyD88 deficiency is unknown. At least 24 affected html:p ar autosomal recessive gene-symbol synonym MYD88 deficiency db-key db key 2015-06 2017-12-29
individuals have been described in the medical literature. MYD88 synonym pyogenic bacterial infections due to MyD88 deficiency GTR C2677092
db-key db key
MeSH D007153
db-key db key
OMIM 612260
db-key db key
bacteria. Most people with this condition have their first bacterial infection Orphanet 183713
before age 2, and the infections can be life-threatening in infancy and db-key db key
childhood. Infections become less frequent by about age 10. SNOMED CT 718232007
html:p
inheritance-pattern-list
MYH9-related disorder https://ghr.nlm.nih.gov/condition/myh9-related-disorder The incidence of MYH9-related disorder is unknown. More than 200 affected html:p ad autosomal dominant gene-symbol synonym autosomal dominant MYH9 spectrum disorders db-key db key 2011-04 2017-12-29
families have been reported in the scientific literature. MYH9 synonym MYH9-related macrothrombocytopenias GTR CN073381
synonym MYH9RD db-key db key
html:p GeneReviews myh9
db-key db key
ICD-10-CM D72.0
db-key db key
-related disorder are larger than normal. These enlarged platelets have MeSH D013921
difficulty moving into tiny blood vessels like capillaries. As a result, the db-key db key
platelet level is even lower in these small vessels, further impairing clotting. OMIM 153640
html:p db-key db key
OMIM 153650
db-key db key
html:p OMIM 155100
db-key db key
OMIM 600208
db-key db key
OMIM 605249
db-key db key
html:p Orphanet 182050
db-key db key
html:p SNOMED CT 234484005
db-key db key
SNOMED CT 234485006
html:p db-key db key
SNOMED CT 236422008
related-gene-list
Myhre syndrome https://ghr.nlm.nih.gov/condition/myhre-syndrome Myhre syndrome is a rare disorder; its prevalence is unknown. At least 60 html:p autosomal dominant SMAD4 https://ghr.nlm.nih.gov/gene/SMAD4 LAPS syndrome db key 2017-06 2017-12-29
cases have been documented in the medical literature. laryngotracheal stenosis, arthropathy, prognathism, and GTR C0796081
db key
GeneReviews myhre
db key
MeSH D000015
db key
OMIM 139210
html:p db key
Orphanet 2588
db key
SNOMED CT 699316006
html:p
html:p
html:p
html:p
html:p
related-gene-list
Myoclonic myopathy sensory ataxia https://ghr.nlm.nih.gov/condition/myoclonic--myopathy-sensory-ataxia The prevalence of myoclonic myopathy sensory ataxia is unknown. html:p ar autosomal recessive POLG synonym db-key db key 2011-06 2017-12-29
synonym GTR C1843852
synonym db-key db key
GeneReviews alpers
db-key db key
MeSH D028361
html:p db-key db key
SNOMED CT 699328003
related-gene-list
Myoclonic with ragged-red fibers https://ghr.nlm.nih.gov/condition/myoclonic--with-ragged-red-fibers MERRF is a rare condition; its prevalence is unknown. MERRF is part of a html:p mitochondrial MT-TF https://ghr.nlm.nih.gov/gene/MT-TF Fukuhara Disease db key 2014-05 2017-12-29
group of conditions known as mitochondrial disorders, which affect an estimated related-gene gene-symbol ghr-page MERRF GTR C0162672
1 in 5,000 people worldwide. MT-TH https://ghr.nlm.nih.gov/gene/MT-TH MERRF syndrome db key
related-gene gene-symbol ghr-page myoclonic associated with ragged-red fibers GeneReviews merrf
MT-TK https://ghr.nlm.nih.gov/gene/MT-TK myoencephalopathy ragged-red fiber disease db key
html:p related-gene gene-symbol ghr-page ICD-10-CM E88.42
MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1 db key
related-gene gene-symbol ghr-page MeSH D017243
MT-TP https://ghr.nlm.nih.gov/gene/MT-TP db key
related-gene gene-symbol ghr-page OMIM 545000
MT-TS1 https://ghr.nlm.nih.gov/gene/MT-TS1 db key
related-gene gene-symbol ghr-page Orphanet 551
MT-TS2 https://ghr.nlm.nih.gov/gene/MT-TS2 db key
related-gene gene-symbol ghr-page SNOMED CT 230426003
MT-TT https://ghr.nlm.nih.gov/gene/MT-TT db key
related-mitochondrial-dna name ghr-page SNOMED CT 57254004
mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
SNOMED CT 68448003
related-gene-list
Myoclonus-dystonia https://ghr.nlm.nih.gov/condition/myoclonus-dystonia The prevalence of myoclonus-dystonia in Europe is estimated to be 1 in html:p autosomal dominant KCTD17 https://ghr.nlm.nih.gov/gene/KCTD17 dystonia 11 db key 2017-10 2017-12-29
500,000 individuals. Its prevalence elsewhere in the world is unknown. related-gene gene-symbol ghr-page DYT11 GTR C1834570
RELN https://ghr.nlm.nih.gov/gene/RELN myoclonus-dystonia syndrome db key
related-gene gene-symbol ghr-page GeneReviews myo-dystonia
SGCE https://ghr.nlm.nih.gov/gene/SGCE db key
MeSH D009207
db key
html:p OMIM 159900
db key
Orphanet 36899
db key
SNOMED CT 439732004
html:p
related-gene-list
Myofibrillar myopathy https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy The prevalence of myofibrillar myopathy is unknown. html:p autosomal dominant BAG3 https://ghr.nlm.nih.gov/gene/BAG3 myofibrillar myopathies db key 2011-01 2017-12-29
related-gene gene-symbol ghr-page GTR C1832370
CRYAB https://ghr.nlm.nih.gov/gene/CRYAB db key
related-gene gene-symbol ghr-page GTR C1836050
html:p DES https://ghr.nlm.nih.gov/gene/DES db key
related-gene gene-symbol ghr-page GTR C1836155
FLNC https://ghr.nlm.nih.gov/gene/FLNC db key
related-gene gene-symbol ghr-page GTR C1836607
LDB3 https://ghr.nlm.nih.gov/gene/LDB3 db key
related-gene gene-symbol ghr-page GTR C1837317
MYOT https://ghr.nlm.nih.gov/gene/MYOT db key
GTR C2678065
db key
html:p GTR C2751831
db key
GeneReviews mfm
db key
MeSH D020914
db key
OMIM 601419
db key
OMIM 608810
db key
OMIM 609200
db key
OMIM 609452
db key
OMIM 609524
db key
OMIM 612954
db key
Orphanet 593
db key
related-gene-list SNOMED CT 699269005
Myopathy with deficiency of iron-sulfur cluster assembly enzyme https://ghr.nlm.nih.gov/condition/myopathy-with-deficiency-of-iron-sulfur-cluste This condition has been reported in several families of northern Swedish html:p autosomal recessive ISCU https://ghr.nlm.nih.gov/gene/ISCU hereditary myopathy with lactic acidosis db key 2009-11 2017-12-29
r-assembly-enzyme ancestry. HML GTR C1850718
iron-sulfur cluster deficiency myopathy db key
myoglobinuria due to abnormal glycolysis GeneReviews myodef-sda
html:p myopathy with deficiency of ISCU db key
myopathy with deficiency of succinate dehydrogenase and aconitase MeSH D009135
myopathy with exercise intolerance, Swedish type db key
OMIM 255125
db key
html:p Orphanet 43115
db key
SNOMED CT 699268002
html:p
related-gene-list
Myosin storage myopathy https://ghr.nlm.nih.gov/condition/myosin-storage-myopathy Myosin storage myopathy is a rare condition. Its prevalence is unknown. html:p autosomal dominant MYH7 https://ghr.nlm.nih.gov/gene/MYH7 autosomal dominant hyaline body myopathy db key 2013-02 2017-12-29
GTR C1842160
db key
MeSH D009135
db key
OMIM 608358
db key
SNOMED CT 699267007
related-gene-list
Myostatin-related muscle hypertrophy https://ghr.nlm.nih.gov/condition/myostatin-related-muscle-hypertrophy The prevalence of this condition is unknown. html:p autosomal dominant MSTN https://ghr.nlm.nih.gov/gene/MSTN Muscle hypertrophy syndrome db key 2008-12 2017-12-29
GTR C2931112
db key
GeneReviews mstn
db key
MeSH D009135
db key
OMIM 601788
db key
Orphanet 275534
db key
related-gene-list SNOMED CT 699185005
Myotonia congenita https://ghr.nlm.nih.gov/condition/myotonia-congenita Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. html:p autosomal dominant CLCN1 https://ghr.nlm.nih.gov/gene/CLCN1 Congenital myotonia db key 2007-04 2017-12-29
This condition is more common in northern Scandinavia, where it occurs in memo GTR C0027127
approximately 1 in 10,000 people. autosomal recessive db key
GTR C0751360
db key
GTR C2936781
db key
GeneReviews myotonia-c
db key
ICD-10-CM G71.12
db key
html:p MeSH D009224
db key
OMIM 160800
db key
OMIM 255700
db key
Orphanet 614
db key
SNOMED CT 20305008
db key
related-gene-list SNOMED CT 57938005
Myotonic dystrophy https://ghr.nlm.nih.gov/condition/myotonic-dystrophy Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The html:p autosomal dominant CNBP https://ghr.nlm.nih.gov/gene/CNBP dystrophia myotonica db key 2010-11 2017-12-29
prevalence of the two types of myotonic dystrophy varies among different related-gene gene-symbol ghr-page myotonia atrophica GTR C0027126
geographic and ethnic populations. In most populations, type 1 appears to be DMPK https://ghr.nlm.nih.gov/gene/DMPK myotonia dystrophica db key
more common than type 2. However, recent studies suggest that type 2 may be as html:p GTR C0752354
common as type 1 among people in Germany and Finland. db key
GeneReviews myotonic-d
db key
GeneReviews myotonic-d2
html:p db key
ICD-10-CM G71.11
db key
MeSH D009223
db key
OMIM 160900
db key
html:p OMIM 602668
db key
Orphanet 273
db key
Orphanet 606
db key
html:p SNOMED CT 195031006
db key
SNOMED CT 240104008
db key
SNOMED CT 77956009
related-gene-list
N-acetylglutamate synthase deficiency https://ghr.nlm.nih.gov/condition/n-acetylglutamate-synthase-deficiency N-acetylglutamate synthase deficiency is a very rare disorder. Only a few html:p autosomal recessive NAGS https://ghr.nlm.nih.gov/gene/NAGS hyperammonemia, type III db key 2006-10 2017-12-29
cases have been reported worldwide, and the overall incidence is unknown. N-acetylglutamate synthetase deficiency GTR C0268543
NAGS deficiency db key
GeneReviews ucd-overview
html:p db key
ICD-10-CM E72.29
db key
MeSH D056806
db key
OMIM 237310
html:p db key
Orphanet 927
db key
SNOMED CT 57119000
related-gene-list
Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-derma NFJS/DPR is a rare condition; its prevalence is unknown. Only a few html:p autosomal dominant KRT14 https://ghr.nlm.nih.gov/gene/KRT14 DPR db key 2013-05 2017-12-29
topathia-pigmentosa-reticularis affected families have been reported in the medical literature. Franceschetti-Jadassohn syndrome GTR C0343111
Naegeli-Franceschetti-Jadassohn syndrome db key
Naegeli syndrome GTR C0406778
NFJ syndrome db key
NFJS MeSH D004476
NFJS/DPR db key
html:p OMIM 125595
db key
OMIM 161000
db key
Orphanet 69087
db key
html:p Orphanet 86920
db key
SNOMED CT 239084001
db key
SNOMED CT 239088003
html:p
related-gene-list
Nager syndrome https://ghr.nlm.nih.gov/condition/nager-syndrome Nager syndrome is a rare condition. Its prevalence is unknown. More than 75 html:p autosomal dominant SF3B4 https://ghr.nlm.nih.gov/gene/SF3B4 acrofacial dysostosis 1, Nager type db key 2017-08 2017-12-29
cases have been reported in the medical literature. memo AFD1 GTR C0265245
autosomal recessive NAFD db key
html:p Nager acrofacial dysostosis MeSH D003394
Nager acrofacial dysostosis syndrome db key
preaxial acrofacial dysostosis OMIM 154400
preaxial mandibulofacial dysostosis db key
Orphanet 245
db key
html:p SNOMED CT 35520007
html:p
html:p
related-gene-list
Nail-patella syndrome https://ghr.nlm.nih.gov/condition/nail-patella-syndrome The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 html:p autosomal dominant LMX1B https://ghr.nlm.nih.gov/gene/LMX1B Fong disease db key 2013-04 2017-12-29
individuals. hereditary onycho-osteodysplasia GTR C0027341
hereditary osteo-onychodysplasia db key
html:p Osterreicher syndrome GeneReviews nail-ps
pelvic horn syndrome db key
Turner-Kieser syndrome MeSH D009261
db key
OMIM 137750
db key
html:p OMIM 161200
db key
Orphanet 2614
db key
SNOMED CT 22199006
html:p
related-gene-list
Nakajo-Nishimura syndrome https://ghr.nlm.nih.gov/condition/nakajo-nishimura-syndrome Nakajo-Nishimura syndrome appears to be rare and has been described only in html:p autosomal recessive PSMB8 https://ghr.nlm.nih.gov/gene/PSMB8 ALDD db key 2013-11 2017-12-29
the Japanese population. About 30 cases have been reported in the medical autoinflammation, lipodystrophy, and dermatosis syndrome GTR C1850568
literature. Japanese autoinflammatory syndrome with lipodystrophy db key
JASL MeSH D056660
Nakajo syndrome db key
html:p NKJO OMIM 256040
db key
Orphanet 2615
db key
SNOMED CT 702449004
html:p
html:p
related-gene-list
Narcolepsy https://ghr.nlm.nih.gov/condition/narcolepsy Narcolepsy affects about 1 in 2,000 people in the United States and Western html:p pattern unknown CHKB https://ghr.nlm.nih.gov/gene/CHKB Gelineau syndrome db key 2010-12 2017-12-29
Europe. However, the disorder is likely underdiagnosed, particularly in people related-gene gene-symbol ghr-page narcoleptic syndrome GTR C1834372
with mild symptoms. Worldwide, narcolepsy appears to be most common in Japan, CPT1B https://ghr.nlm.nih.gov/gene/CPT1B db key
where it affects an estimated 1 in 600 people. html:p related-gene gene-symbol ghr-page GTR C1836907
HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 db key
related-gene gene-symbol ghr-page GTR C1853901
HLA-DQB1 https://ghr.nlm.nih.gov/gene/HLA-DQB1 db key
related-gene gene-symbol ghr-page GTR C2676275
HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 db key
html:p related-gene gene-symbol ghr-page GTR C2748508
TNF https://ghr.nlm.nih.gov/gene/TNF db key
related-gene gene-symbol ghr-page ICD-10-CM G47.4
TNFRSF1B https://ghr.nlm.nih.gov/gene/TNFRSF1B db key
related-gene gene-symbol ghr-page ICD-10-CM G47.41
TRA https://ghr.nlm.nih.gov/gene/TRA db key
ICD-10-CM G47.42
db key
html:p ICD-10-CM G47.411
db key
ICD-10-CM G47.419
db key
ICD-10-CM G47.421
db key
ICD-10-CM G47.429
db key
MeSH D009290
db key
html:p OMIM 161400
db key
OMIM 605841
db key
OMIM 609039
db key
OMIM 612417
db key
OMIM 612851
db key
Orphanet 2073
db key
Orphanet 83465
db key
SNOMED CT 193042000
db key
related-gene-list SNOMED CT 60380001
Nemaline myopathy https://ghr.nlm.nih.gov/condition/nemaline-myopathy Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals. html:p autosomal dominant ACTA1 https://ghr.nlm.nih.gov/gene/ACTA1 myopathies, nemaline db key 2015-12 2017-12-29
memo related-gene gene-symbol ghr-page myopathy, nemaline GTR C0206157
autosomal recessive CFL2 https://ghr.nlm.nih.gov/gene/CFL2 nemaline body disease db key
related-gene gene-symbol ghr-page nemaline rod disease GTR C1834336
KBTBD13 https://ghr.nlm.nih.gov/gene/KBTBD13 rod body disease db key
related-gene gene-symbol ghr-page rod-body myopathy GTR C1836447
KLHL40 https://ghr.nlm.nih.gov/gene/KLHL40 rod myopathy db key
related-gene gene-symbol ghr-page GTR C1836448
KLHL41 https://ghr.nlm.nih.gov/gene/KLHL41 db key
related-gene gene-symbol ghr-page GTR C1836472
LMOD3 https://ghr.nlm.nih.gov/gene/LMOD3 db key
related-gene gene-symbol ghr-page GTR C1850569
html:p NEB https://ghr.nlm.nih.gov/gene/NEB db key
related-gene gene-symbol ghr-page GTR C1853154
TNNT1 https://ghr.nlm.nih.gov/gene/TNNT1 db key
related-gene gene-symbol ghr-page GTR C1854380
TPM2 https://ghr.nlm.nih.gov/gene/TPM2 db key
related-gene gene-symbol ghr-page GTR C3809209
TPM3 https://ghr.nlm.nih.gov/gene/TPM3 db key
GTR C3810384
db key
GTR C4015360
db key
GeneReviews nem
db key
ICD-10-CM G71.2
db key
MeSH D017696
db key
OMIM 161800
db key
OMIM 256030
db key
OMIM 605355
db key
OMIM 609273
db key
OMIM 609284
db key
OMIM 609285
db key
OMIM 610687
db key
OMIM 615348
db key
OMIM 615731
db key
OMIM 616165
db key
Orphanet 607
db key
Orphanet 171430
db key
Orphanet 171433
db key
Orphanet 171436
db key
Orphanet 171439
db key
Orphanet 171442
db key
Orphanet 207009
db key
Orphanet 98902
db key
related-gene-list SNOMED CT 75072002
Neonatal onset multisystem inflammatory disease https://ghr.nlm.nih.gov/condition/neonatal-onset-multisystem-inflammatory-diseas NOMID is a very rare disorder; approximately 100 affected individuals have html:p autosomal dominant NLRP3 https://ghr.nlm.nih.gov/gene/NLRP3 chronic infantile neurologic, cutaneous, and articular syndrome db key 2008-09 2017-12-29
e been reported worldwide. chronic infantile neurological, cutaneous and articular syndrome GTR C0409818
chronic neurologic, cutaneous, and articular syndrome db key
CINCA MeSH D056587
html:p CINCA syndrome db key
infantile onset multisystem inflammatory disease OMIM 607115
html:p IOMID syndrome db key
NOMID Orphanet 1451
Prieur-Griscelli syndrome db key
SNOMED CT 239826001
db key
html:p SNOMED CT 430079001
html:p
related-gene-list
Nephrogenic diabetes insipidus https://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus The prevalence of nephrogenic diabetes insipidus is unknown, although the html:p autosomal dominant AQP2 https://ghr.nlm.nih.gov/gene/AQP2 ADH-resistant diabetes insipidus db key 2010-04 2017-12-29
condition is thought to be rare. The acquired form occurs more frequently than memo related-gene gene-symbol ghr-page congenital nephrogenic diabetes insipidus GTR C0162283
the hereditary form. autosomal recessive AVPR2 https://ghr.nlm.nih.gov/gene/AVPR2 diabetes insipidus renalis db key
memo diabetes insipidus, nephrogenic GTR C1563705
X-linked recessive NDI db key
vasopressin-resistant diabetes insipidus GTR C1563706
html:p db key
GeneReviews ndi
db key
ICD-10-CM N25.1
db key
html:p MeSH D018500
db key
OMIM 125800
db key
OMIM 304800
db key
Orphanet 223
html:p db key
SNOMED CT 111395007
db key
SNOMED CT 61165007
db key
SNOMED CT 81475007
related-gene-list
Nephronophthisis https://ghr.nlm.nih.gov/condition/nephronophthisis Nephronophthisis is found in populations worldwide. It occurs in an html:p autosomal recessive ANKS6 https://ghr.nlm.nih.gov/gene/ANKS6 NPH db key 2014-09 2017-12-29
estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in related-gene gene-symbol ghr-page NPHP GTR C0687120
922,000 in the United States. Its incidence in other populations is unknown. CEP83 https://ghr.nlm.nih.gov/gene/CEP83 db key
Nephronophthisis is the most common genetic cause of ESRD in children and young related-gene gene-symbol ghr-page GTR C1847013
adults. CEP164 https://ghr.nlm.nih.gov/gene/CEP164 db key
related-gene gene-symbol ghr-page GTR C1855681
GLIS2 https://ghr.nlm.nih.gov/gene/GLIS2 db key
html:p related-gene gene-symbol ghr-page GTR C1858392
INVS https://ghr.nlm.nih.gov/gene/INVS db key
related-gene gene-symbol ghr-page GTR C1865872
NEK8 https://ghr.nlm.nih.gov/gene/NEK8 db key
related-gene gene-symbol ghr-page GTR C1969092
NPHP1 https://ghr.nlm.nih.gov/gene/NPHP1 db key
html:p related-gene gene-symbol ghr-page GTR C3150796
NPHP3 https://ghr.nlm.nih.gov/gene/NPHP3 db key
related-gene gene-symbol ghr-page GTR C3151186
NPHP4 https://ghr.nlm.nih.gov/gene/NPHP4 db key
related-gene gene-symbol ghr-page GTR C3151188
html:p TMEM67 https://ghr.nlm.nih.gov/gene/TMEM67 db key
related-gene gene-symbol ghr-page GTR C3539071
TTC21B https://ghr.nlm.nih.gov/gene/TTC21B db key
related-gene gene-symbol ghr-page GTR C3541853
WDR19 https://ghr.nlm.nih.gov/gene/WDR19 db key
related-gene gene-symbol ghr-page GTR C3809320
ZNF423 https://ghr.nlm.nih.gov/gene/ZNF423 db key
GTR C3890591
db key
GeneReviews nephron-ov
db key
MeSH D052177
db key
OMIM 256100
db key
OMIM 602088
db key
OMIM 604387
db key
OMIM 606966
db key
OMIM 611498
db key
OMIM 613550
db key
OMIM 613820
db key
OMIM 613824
db key
OMIM 614377
db key
OMIM 614844
db key
OMIM 614845
db key
OMIM 615382
db key
OMIM 615862
db key
Orphanet 655
db key
related-gene-list SNOMED CT 204958008
Netherton syndrome https://ghr.nlm.nih.gov/condition/netherton-syndrome Netherton syndrome is estimated to affect 1 in 200,000 newborns. html:p autosomal recessive SPINK5 https://ghr.nlm.nih.gov/gene/SPINK5 bamboo hair syndrome db key 2014-03 2017-12-29
Comel-Netherton syndrome GTR C0265962
ichthyosiform erythroderma with hypotrichosis and hyper-IgE db key
ichthyosis linearis circumflexa MeSH D056770
ILC db key
NETH OMIM 256500
Netherton disease db key
NS Orphanet 634
db key
SNOMED CT 312514006
html:p
html:p
html:p
html:p
related-gene-list
Neuroblastoma https://ghr.nlm.nih.gov/condition/neuroblastoma Neuroblastoma is the most common cancer in infants younger than 1 year. It html:p autosomal dominant ALK https://ghr.nlm.nih.gov/gene/ALK NB db key 2011-03 2017-12-29
occurs in 1 in 100,000 children and is diagnosed in about 650 children each year memo related-gene gene-symbol ghr-page GTR C0027819
in the United States. not inherited BARD1 https://ghr.nlm.nih.gov/gene/BARD1 db key
related-gene gene-symbol ghr-page GTR C2751681
ERBB2 https://ghr.nlm.nih.gov/gene/ERBB2 db key
related-gene gene-symbol ghr-page GTR C2751682
KIF1B https://ghr.nlm.nih.gov/gene/KIF1B db key
html:p related-gene gene-symbol ghr-page GeneReviews alk-nbs
LMO1 https://ghr.nlm.nih.gov/gene/LMO1 db key
related-gene gene-symbol ghr-page MeSH D009447
MYCN https://ghr.nlm.nih.gov/gene/MYCN db key
related-gene gene-symbol ghr-page OMIM 256700
PHOX2B https://ghr.nlm.nih.gov/gene/PHOX2B db key
related-chromosome name ghr-page OMIM 613013
1 https://ghr.nlm.nih.gov/chromosome/1 db key
related-chromosome name ghr-page OMIM 613014
11 https://ghr.nlm.nih.gov/chromosome/11 db key
Orphanet 635
db key
html:p SNOMED CT 432328008
db key
SNOMED CT 87364003
html:p
related-gene-list
Neuroferritinopathy https://ghr.nlm.nih.gov/condition/neuroferritinopathy The prevalence of neuroferritinopathy is unknown. Fewer than 100 html:p autosomal dominant FTL https://ghr.nlm.nih.gov/gene/FTL basal ganglia disease, adult-onset db key 2014-08 2017-12-29
individuals with this disorder have been reported. ferritin-related neurodegeneration GTR C1853578
hereditary ferritinopathy db key
NBIA3 GeneReviews neuroferritin
neurodegeneration with brain iron accumulation 3 db key
MeSH D001796
db key
OMIM 606159
db key
html:p Orphanet 385
db key
SNOMED CT 699299001
related-gene-list
Neurofibromatosis type 1 https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1 Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide. html:p autosomal dominant NF1 https://ghr.nlm.nih.gov/gene/NF1 Neurofibromatosis 1 db key 2012-07 2017-12-29
NF1 GTR C0027831
Peripheral Neurofibromatosis db key
Recklinghausen Disease, Nerve GeneReviews nf1
html:p von Recklinghausen Disease db key
ICD-10-CM Q85.0
db key
ICD-10-CM Q85.00
db key
html:p ICD-10-CM Q85.01
db key
MeSH D009456
db key
OMIM 162200
db key
Orphanet 636
db key
SNOMED CT 92824003
html:p
html:p
related-gene-list
Neurofibromatosis type 2 https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2 Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people html:p autosomal dominant NF2 https://ghr.nlm.nih.gov/gene/NF2 BANF db key 2013-12 2017-12-29
worldwide. bilateral acoustic neurofibromatosis GTR C0027832
central neurofibromatosis db key
familial acoustic neuromas GeneReviews nf2
neurofibromatosis 2 db key
neurofibromatosis type II ICD-10-CM Q85.0
html:p NF2 db key
schwannoma, acoustic, bilateral ICD-10-CM Q85.00
db key
ICD-10-CM Q85.02
db key
ICD-10-CM Q85.03
db key
MeSH D016518
db key
OMIM 101000
db key
Orphanet 637
db key
related-gene-list SNOMED CT 92503002
Neurohypophyseal diabetes insipidus https://ghr.nlm.nih.gov/condition/neurohypophyseal-diabetes-insipidus Neurohypophyseal diabetes insipidus is thought to be rare, although its html:p autosomal dominant AVP https://ghr.nlm.nih.gov/gene/AVP central diabetes insipidus db key 2010-04 2017-12-29
exact incidence is unknown. The acquired form occurs much more frequently than memo diabetes insipidus secondary to vasopressin deficiency GTR C0687720
the familial form. autosomal recessive diabetes insipidus, central db key
diabetes insipidus, neurogenic ICD-10-CM E23.2
diabetes insipidus, neurohypophyseal db key
html:p diabetes insipidus, pituitary MeSH D020790
pituitary diabetes insipidus db key
vasopressin defective diabetes insipidus OMIM 125700
vasopressin deficiency db key
html:p Orphanet 178029
db key
SNOMED CT 45369008
html:p
synonym-list db-key-list
Neuromyelitis optica https://ghr.nlm.nih.gov/condition/neuromyelitis-optica Neuromyelitis optica affects approximately 1 to 2 per 100,000 people html:p pattern unknown synonym Devic neuromyelitis optica key 2017-12-29
worldwide. Women are affected by this condition more frequently than men. synonym Devic syndrome db-key C0027873
synonym Devic's disease key
synonym optic-spinal MS db-key G36.0
synonym opticospinal MS key
db-key D009471
html:p key
db-key 600308
key
db-key 71211
html:p key
25044007
html:p
html:p
related-gene-list
Neuropathy, ataxia, and retinitis pigmentosa https://ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa The prevalence of NARP is unknown. This disorder is probably less common html:p mitochondrial MT-ATP6 https://ghr.nlm.nih.gov/gene/MT-ATP6 NARP db key 2006-11 2017-12-29
than a similar but more severe condition, Leigh syndrome, which affects about 1 related-mitochondrial-dna name ghr-page NARP syndrome GTR C1838914
in 40,000 people. mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna neurogenic muscle weakness, ataxia, and retinitis pigmentosa db key
neuropathy, ataxia, and retinitis pigmentos GeneReviews mt-overview
db key
GeneReviews narp
db key
ICD-10-CM E88.49
db key
html:p MeSH D028361
db key
OMIM 551500
db key
Orphanet 644
db key
related-gene-list SNOMED CT 237984008
Neutral lipid storage disease with myopathy https://ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy Neutral lipid storage disease with myopathy is a rare condition; its html:p autosomal recessive PNPLA2 https://ghr.nlm.nih.gov/gene/PNPLA2 neutral lipid storage disease without ichthyosis db key 2014-02 2017-12-29
incidence is unknown. NLSDM GTR C1853136
db key
MeSH D008052
db key
OMIM 610717
db key
Orphanet 165
db key
inheritance-pattern-list SNOMED CT 699315005
NGLY1-congenital disorder of deglycosylation https://ghr.nlm.nih.gov/condition/ngly1-congenital-disorder-of-deglycosylation NGLY1-CDDG is a rare disorder. At least 46 individuals with the condition html:p ar autosomal recessive gene-symbol synonym congenital disorder of deglycosylation db-key db key 2017-08 2017-12-29
have been described in the medical literature. NGLY1 synonym deficiency of N-glycanase 1 GTR C3808991
synonym NGLY1-CDDG db-key db key
html:p MeSH D002239
db-key db key
OMIM 615273
-CDDG.
related-gene-list
Nicolaides-Baraitser syndrome https://ghr.nlm.nih.gov/condition/nicolaides-baraitser-syndrome Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 html:p autosomal dominant SMARCA2 https://ghr.nlm.nih.gov/gene/SMARCA2 NBS db key 2015-12 2017-12-29
cases have been reported in the scientific literature. NCBRS GTR C1303073
db key
GeneReviews nbs
db key
MeSH D000015
html:p db key
MeSH D008607
db key
OMIM 601358
db key
Orphanet 3051
db key
html:p SNOMED CT 401046009
html:p
html:p
html:p
html:p
html:p
related-gene-list
Niemann-Pick disease https://ghr.nlm.nih.gov/condition/niemann-pick-disease Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 html:p autosomal recessive NPC1 https://ghr.nlm.nih.gov/gene/NPC1 lipid histiocytosis db key 2015-01 2017-12-29
individuals. Niemann-Pick disease type A occurs more frequently among related-gene gene-symbol ghr-page neuronal cholesterol lipidosis GTR C0028064
individuals of Ashkenazi (eastern and central European) Jewish descent than in NPC2 https://ghr.nlm.nih.gov/gene/NPC2 neuronal lipidosis db key
the general population. The incidence within the Ashkenazi population is related-gene gene-symbol ghr-page NPD GTR C0220756
approximately 1 in 40,000 individuals.Combined, Niemann-Pick disease types C1 SMPD1 https://ghr.nlm.nih.gov/gene/SMPD1 sphingomyelin lipidosis db key
and C2 are estimated to affect 1 in 150,000 individuals; however, type C1 is by html:p sphingomyelin/cholesterol lipidosis GTR C0268242
far the more common type, accounting for 95 percent of cases. The disease occurs sphingomyelinase deficiency db key
more frequently in people of French-Acadian descent in Nova Scotia. In Nova GTR C0268243
Scotia, a population of affected French-Acadians were previously designated as db key
having Niemann-Pick disease type D, however, it was shown that these individuals GTR C0268247
have mutations in the gene associated with Niemann-Pick disease type C1. db key
GTR C1843366
db key
GTR C2675646
db key
html:p GTR C3179455
db key
GeneReviews npab
db key
GeneReviews npc
db key
ICD-10-CM E75.24
db key
html:p ICD-10-CM E75.240
db key
ICD-10-CM E75.241
db key
ICD-10-CM E75.242
db key
ICD-10-CM E75.243
db key
ICD-10-CM E75.248
db key
ICD-10-CM E75.249
db key
MeSH D009542
db key
OMIM 257200
db key
OMIM 257220
db key
OMIM 607616
db key
OMIM 607625
db key
Orphanet 646
db key
Orphanet 77292
db key
Orphanet 77293
db key
Orphanet 79289
db key
Orphanet 99022
db key
SNOMED CT 18927009
db key
SNOMED CT 39390005
db key
SNOMED CT 52165006
db key
SNOMED CT 58459009
db key
SNOMED CT 66751000
db key
related-gene-list SNOMED CT 73399005
Nijmegen breakage syndrome https://ghr.nlm.nih.gov/condition/nijmegen-breakage-syndrome The exact prevalence of Nijmegen breakage syndrome is unknown. This html:p autosomal recessive NBN https://ghr.nlm.nih.gov/gene/NBN ataxia-telangiectasia variant 1 db key 2017-05 2017-12-29
condition is estimated to affect one in 100,000 newborns worldwide, but is Berlin breakage syndrome GTR C0398791
thought to be most common in the Slavic populations of Eastern Europe. microcephaly, normal intelligence and immunodeficiency db key
Seemanova syndrome GeneReviews nijmegen
html:p db key
MeSH D049932
db key
OMIM 251260
db key
Orphanet 647
db key
SNOMED CT 234638009
html:p
html:p
html:p
html:p
related-gene-list
Non-alcoholic fatty liver disease https://ghr.nlm.nih.gov/condition/non-alcoholic-fatty-liver-disease NAFLD is a very common disorder, occurring in about 25 percent of the html:p pattern unknown APOC3 https://ghr.nlm.nih.gov/gene/APOC3 fatty liver db key 2016-11 2017-12-29
global population. Its prevalence is increasing along with the rising prevalence related-gene gene-symbol ghr-page NAFLD GTR C2750440
of obesity in industrialized societies, and it is now the most common chronic GCKR https://ghr.nlm.nih.gov/gene/GCKR NASH db key
liver disorder in Western countries, including the United States. NAFLD is more related-gene gene-symbol ghr-page non-alcoholic steatohepatitis GTR C3150651
prevalent in individuals of Hispanic, Native American, or Asian ancestry than in MBOAT7 https://ghr.nlm.nih.gov/gene/MBOAT7 nonalcoholic fatty liver disease db key
individuals of European or African ancestry. related-gene gene-symbol ghr-page nonalcoholic steatohepatitis ICD-10-CM K75.81
PNPLA3 https://ghr.nlm.nih.gov/gene/PNPLA3 steatosis db key
html:p related-gene gene-symbol ghr-page MeSH D065626
TM6SF2 https://ghr.nlm.nih.gov/gene/TM6SF2 db key
related-gene gene-symbol ghr-page OMIM 613282
TRIB1 https://ghr.nlm.nih.gov/gene/TRIB1 db key
html:p OMIM 613387
db key
Orphanet 33271
db key
SNOMED CT 197315008
html:p
html:p
related-gene-list
Nonbullous congenital ichthyosiform erythroderma https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroder NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the html:p autosomal recessive ABCA12 https://ghr.nlm.nih.gov/gene/ABCA12 congenital ichthyosiform erythroderma db key 2017-07 2017-12-29
ma United States. This condition is more common in Norway, where an estimated 1 in related-gene gene-symbol ghr-page congenital nonbullous ichthyosiform erythroderma GTR C1832550
90,000 people are affected. ALOX12B https://ghr.nlm.nih.gov/gene/ALOX12B NBCIE db key
related-gene gene-symbol ghr-page NBIE GTR C1847849
ALOXE3 https://ghr.nlm.nih.gov/gene/ALOXE3 NCIE db key
related-gene gene-symbol ghr-page nonbullous ichthyosiform erythroderma GTR C1855792
CASP14 https://ghr.nlm.nih.gov/gene/CASP14 db key
related-gene gene-symbol ghr-page GTR C1858142
CERS3 https://ghr.nlm.nih.gov/gene/CERS3 db key
html:p related-gene gene-symbol ghr-page GTR C2677065
CYP4F22 https://ghr.nlm.nih.gov/gene/CYP4F22 db key
related-gene gene-symbol ghr-page GTR C3554349
NIPAL4 https://ghr.nlm.nih.gov/gene/NIPAL4 db key
related-gene gene-symbol ghr-page GTR C3554355
html:p PNPLA1 https://ghr.nlm.nih.gov/gene/PNPLA1 db key
GTR C4310621
db key
GeneReviews li-ar
db key
MeSH D016113
db key
OMIM 242100
db key
OMIM 601277
db key
OMIM 604777
db key
OMIM 606545
db key
OMIM 612281
db key
OMIM 615023
db key
OMIM 615024
db key
OMIM 617320
db key
Orphanet 281097
db key
synonym-list db-key-list SNOMED CT 267372009
Nonsyndromic aplasia cutis congenita https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The html:p autosomal dominant synonym congenital absence of skin on scalp key 2017-12-29
incidence of the nonsyndromic form is unknown. memo synonym congenital defect of the skull and scalp db-key C0282160
autosomal recessive synonym congenital ulcer of the newborn key
memo synonym scalp defect congenital db-key D004476
not inherited key
db-key 107600
html:p key
db-key 1114
key
239152005
html:p
html:p
related-gene-list
Nonsyndromic congenital nail disorder 10 https://ghr.nlm.nih.gov/condition/nonsyndromic-congenital-nail-disorder-10 Nonsyndromic congenital nail disorder 10 is likely a rare disorder. At html:p autosomal recessive FZD6 https://ghr.nlm.nih.gov/gene/FZD6 claw-shaped nails db key 2017-03 2017-12-29
least 14 affected individuals have been described in the scientific literature. nail disorder, nonsyndromic congenital, 10 GTR C3279974
NDNC10 db key
onychauxis, hyponychia, and onycholysis ICD-10-CM L60.1
db key
html:p ICD-10-CM Q84.5
db key
MeSH D054039
html:p db key
OMIM 614157
db key
Orphanet 280654
db key
SNOMED CT 75789001
db key
related-gene-list SNOMED CT 88103004
Nonsyndromic hearing loss https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss Between 2 and 3 per 1,000 children in the United States are born with html:p autosomal dominant ACTG1 https://ghr.nlm.nih.gov/gene/ACTG1 isolated deafness db key 2016-02 2017-12-29
detectable hearing loss in one or both ears. The prevalence of hearing loss memo related-gene gene-symbol ghr-page nonsyndromic deafness GTR C0236038
increases with age; the condition affects 1 in 8 people in the United States age autosomal recessive ADCY1 https://ghr.nlm.nih.gov/gene/ADCY1 nonsyndromic hearing impairment db key
12 and older, or about 30 million people. By age 85, more than half of all html:p memo related-gene gene-symbol ghr-page nonsyndromic hearing loss and deafness GTR CN043648
people experience hearing loss. mitochondrial BDP1 https://ghr.nlm.nih.gov/gene/BDP1 db key
memo related-gene gene-symbol ghr-page GTR CN043651
X-linked BSND https://ghr.nlm.nih.gov/gene/BSND db key
related-gene gene-symbol ghr-page GeneReviews deafness-overview
CABP2 https://ghr.nlm.nih.gov/gene/CABP2 db key
related-gene gene-symbol ghr-page GeneReviews dfna2
html:p CCDC50 https://ghr.nlm.nih.gov/gene/CCDC50 db key
related-gene gene-symbol ghr-page GeneReviews dfna3
CDH23 https://ghr.nlm.nih.gov/gene/CDH23 db key
related-gene gene-symbol ghr-page GeneReviews dfnb1
CEACAM16 https://ghr.nlm.nih.gov/gene/CEACAM16 db key
related-gene gene-symbol ghr-page GeneReviews dfnb9
CIB2 https://ghr.nlm.nih.gov/gene/CIB2 db key
related-gene gene-symbol ghr-page GeneReviews dfnx1
CLDN14 https://ghr.nlm.nih.gov/gene/CLDN14 db key
html:p related-gene gene-symbol ghr-page GeneReviews mt-deafness
CLIC5 https://ghr.nlm.nih.gov/gene/CLIC5 db key
related-gene gene-symbol ghr-page GeneReviews tbc1d24-dis
COCH https://ghr.nlm.nih.gov/gene/COCH db key
related-gene gene-symbol ghr-page GeneReviews wfs
COL4A6 https://ghr.nlm.nih.gov/gene/COL4A6 db key
related-gene gene-symbol ghr-page ICD-10-CM H90
COL11A2 https://ghr.nlm.nih.gov/gene/COL11A2 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.0
CRYM https://ghr.nlm.nih.gov/gene/CRYM db key
html:p related-gene gene-symbol ghr-page ICD-10-CM H90.1
DCDC2 https://ghr.nlm.nih.gov/gene/DCDC2 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.2
DIABLO https://ghr.nlm.nih.gov/gene/DIABLO db key
related-gene gene-symbol ghr-page ICD-10-CM H90.3
DIAPH1 https://ghr.nlm.nih.gov/gene/DIAPH1 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.4
DSPP https://ghr.nlm.nih.gov/gene/DSPP db key
related-gene gene-symbol ghr-page ICD-10-CM H90.5
ELMOD3 https://ghr.nlm.nih.gov/gene/ELMOD3 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.6
EPS8 https://ghr.nlm.nih.gov/gene/EPS8 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.7
ESPN https://ghr.nlm.nih.gov/gene/ESPN db key
related-gene gene-symbol ghr-page ICD-10-CM H90.8
ESRRB https://ghr.nlm.nih.gov/gene/ESRRB db key
related-gene gene-symbol ghr-page ICD-10-CM H90.11
EYA4 https://ghr.nlm.nih.gov/gene/EYA4 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.12
GIPC3 https://ghr.nlm.nih.gov/gene/GIPC3 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.41
GJB2 https://ghr.nlm.nih.gov/gene/GJB2 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.42
GJB3 https://ghr.nlm.nih.gov/gene/GJB3 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.71
GJB6 https://ghr.nlm.nih.gov/gene/GJB6 db key
related-gene gene-symbol ghr-page ICD-10-CM H90.72
GPSM2 https://ghr.nlm.nih.gov/gene/GPSM2 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8
GRHL2 https://ghr.nlm.nih.gov/gene/GRHL2 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8X
GRXCR1 https://ghr.nlm.nih.gov/gene/GRXCR1 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8X1
GRXCR2 https://ghr.nlm.nih.gov/gene/GRXCR2 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8X2
GSDME https://ghr.nlm.nih.gov/gene/GSDME db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8X3
HGF https://ghr.nlm.nih.gov/gene/HGF db key
related-gene gene-symbol ghr-page ICD-10-CM H91.8X9
HOMER2 https://ghr.nlm.nih.gov/gene/HOMER2 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.9
ILDR1 https://ghr.nlm.nih.gov/gene/ILDR1 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.90
KARS https://ghr.nlm.nih.gov/gene/KARS db key
related-gene gene-symbol ghr-page ICD-10-CM H91.91
KCNQ4 https://ghr.nlm.nih.gov/gene/KCNQ4 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.92
LHFPL5 https://ghr.nlm.nih.gov/gene/LHFPL5 db key
related-gene gene-symbol ghr-page ICD-10-CM H91.93
LOXHD1 https://ghr.nlm.nih.gov/gene/LOXHD1 db key
related-gene gene-symbol ghr-page MeSH D003638
LRTOMT https://ghr.nlm.nih.gov/gene/LRTOMT db key
related-gene gene-symbol ghr-page MeSH D034381
MARVELD2 https://ghr.nlm.nih.gov/gene/MARVELD2 db key
related-gene gene-symbol ghr-page OMIM 220290
MET https://ghr.nlm.nih.gov/gene/MET db key
related-gene gene-symbol ghr-page OMIM 300030
MIR96 https://ghr.nlm.nih.gov/gene/MIR96 db key
related-gene gene-symbol ghr-page OMIM 300066
MSRB3 https://ghr.nlm.nih.gov/gene/MSRB3 db key
related-gene gene-symbol ghr-page OMIM 300614
MT-CO1 https://ghr.nlm.nih.gov/gene/MT-CO1 db key
related-gene gene-symbol ghr-page OMIM 300914
MT-RNR1 https://ghr.nlm.nih.gov/gene/MT-RNR1 db key
related-gene gene-symbol ghr-page OMIM 304400
MT-TS1 https://ghr.nlm.nih.gov/gene/MT-TS1 db key
related-gene gene-symbol ghr-page OMIM 304500
MYH9 https://ghr.nlm.nih.gov/gene/MYH9 db key
related-gene gene-symbol ghr-page OMIM 580000
MYH14 https://ghr.nlm.nih.gov/gene/MYH14 db key
related-gene gene-symbol ghr-page OMIM 600060
MYO3A https://ghr.nlm.nih.gov/gene/MYO3A db key
related-gene gene-symbol ghr-page OMIM 600101
MYO6 https://ghr.nlm.nih.gov/gene/MYO6 db key
related-gene gene-symbol ghr-page OMIM 600316
MYO7A https://ghr.nlm.nih.gov/gene/MYO7A db key
related-gene gene-symbol ghr-page OMIM 600652
MYO15A https://ghr.nlm.nih.gov/gene/MYO15A db key
related-gene gene-symbol ghr-page OMIM 600965
NARS2 https://ghr.nlm.nih.gov/gene/NARS2 db key
related-gene gene-symbol ghr-page OMIM 600974
OSBPL2 https://ghr.nlm.nih.gov/gene/OSBPL2 db key
related-gene gene-symbol ghr-page OMIM 600994
OTOA https://ghr.nlm.nih.gov/gene/OTOA db key
related-gene gene-symbol ghr-page OMIM 601071
OTOF https://ghr.nlm.nih.gov/gene/OTOF db key
related-gene gene-symbol ghr-page OMIM 601316
OTOG https://ghr.nlm.nih.gov/gene/OTOG db key
related-gene gene-symbol ghr-page OMIM 601317
OTOGL https://ghr.nlm.nih.gov/gene/OTOGL db key
related-gene gene-symbol ghr-page OMIM 601369
P2RX2 https://ghr.nlm.nih.gov/gene/P2RX2 db key
related-gene gene-symbol ghr-page OMIM 601386
PCDH15 https://ghr.nlm.nih.gov/gene/PCDH15 db key
related-gene gene-symbol ghr-page OMIM 601412
PJVK https://ghr.nlm.nih.gov/gene/PJVK db key
related-gene gene-symbol ghr-page OMIM 601543
PNPT1 https://ghr.nlm.nih.gov/gene/PNPT1 db key
related-gene gene-symbol ghr-page OMIM 601543
POU3F4 https://ghr.nlm.nih.gov/gene/POU3F4 db key
related-gene gene-symbol ghr-page OMIM 601544
POU4F3 https://ghr.nlm.nih.gov/gene/POU4F3 db key
related-gene gene-symbol ghr-page OMIM 601868
PRPS1 https://ghr.nlm.nih.gov/gene/PRPS1 db key
related-gene gene-symbol ghr-page OMIM 602092
PTPRQ https://ghr.nlm.nih.gov/gene/PTPRQ db key
related-gene gene-symbol ghr-page OMIM 602459
RDX https://ghr.nlm.nih.gov/gene/RDX db key
related-gene gene-symbol ghr-page OMIM 603010
RIPOR2 https://ghr.nlm.nih.gov/gene/RIPOR2 db key
related-gene gene-symbol ghr-page OMIM 603098
SERPINB6 https://ghr.nlm.nih.gov/gene/SERPINB6 db key
related-gene gene-symbol ghr-page OMIM 603629
SLC17A8 https://ghr.nlm.nih.gov/gene/SLC17A8 db key
related-gene gene-symbol ghr-page OMIM 603720
SLC26A4 https://ghr.nlm.nih.gov/gene/SLC26A4 db key
related-gene gene-symbol ghr-page OMIM 604060
SLC26A5 https://ghr.nlm.nih.gov/gene/SLC26A5 db key
related-gene gene-symbol ghr-page OMIM 604717
SMPX https://ghr.nlm.nih.gov/gene/SMPX db key
related-gene gene-symbol ghr-page OMIM 605192
STRC https://ghr.nlm.nih.gov/gene/STRC db key
related-gene gene-symbol ghr-page OMIM 606346
SYNE4 https://ghr.nlm.nih.gov/gene/SYNE4 db key
related-gene gene-symbol ghr-page OMIM 606705
TBC1D24 https://ghr.nlm.nih.gov/gene/TBC1D24 db key
related-gene gene-symbol ghr-page OMIM 607084
TECTA https://ghr.nlm.nih.gov/gene/TECTA db key
related-gene gene-symbol ghr-page OMIM 607197
TJP2 https://ghr.nlm.nih.gov/gene/TJP2 db key
related-gene gene-symbol ghr-page OMIM 607239
TMC1 https://ghr.nlm.nih.gov/gene/TMC1 db key
related-gene gene-symbol ghr-page OMIM 607683
TMEM132E https://ghr.nlm.nih.gov/gene/TMEM132E db key
related-gene gene-symbol ghr-page OMIM 607821
TMIE https://ghr.nlm.nih.gov/gene/TMIE db key
related-gene gene-symbol ghr-page OMIM 607841
TMPRSS3 https://ghr.nlm.nih.gov/gene/TMPRSS3 db key
related-gene gene-symbol ghr-page OMIM 608394
TNC https://ghr.nlm.nih.gov/gene/TNC db key
related-gene gene-symbol ghr-page OMIM 609006
TPRN https://ghr.nlm.nih.gov/gene/TPRN db key
related-gene gene-symbol ghr-page OMIM 609823
TRIOBP https://ghr.nlm.nih.gov/gene/TRIOBP db key
related-gene gene-symbol ghr-page OMIM 610265
TSPEAR https://ghr.nlm.nih.gov/gene/TSPEAR db key
related-gene gene-symbol ghr-page Orphanet 87884
USH1C https://ghr.nlm.nih.gov/gene/USH1C db key
related-gene gene-symbol ghr-page SNOMED CT 343087000
WFS1 https://ghr.nlm.nih.gov/gene/WFS1 db key
related-gene gene-symbol ghr-page SNOMED CT 44057004
WHRN https://ghr.nlm.nih.gov/gene/WHRN db key
related-mitochondrial-dna name ghr-page SNOMED CT 48758008
mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
SNOMED CT 60700002
db key
SNOMED CT 8531006
db key
SNOMED CT 95820000
db key
related-gene-list SNOMED CT 95821001
Nonsyndromic holoprosencephaly https://ghr.nlm.nih.gov/condition/nonsyndromic-holoprosencephaly Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent html:p autosomal dominant DISP1 https://ghr.nlm.nih.gov/gene/DISP1 holoprosencephaly sequence db key 2010-09 2017-12-29
of all cases of holoprosencephaly, which affects an estimated 1 in 10,000 related-gene gene-symbol ghr-page isolated holoprosencephaly GTR C0079541
newborns. FGF8 https://ghr.nlm.nih.gov/gene/FGF8 isolated HPE db key
related-gene gene-symbol ghr-page non-syndromic, non-chromosomal holoprosencephaly GTR C1834877
FOXH1 https://ghr.nlm.nih.gov/gene/FOXH1 non-syndromic, non-chromosomal HPE db key
related-gene gene-symbol ghr-page nonsyndromic HPE GTR C1835819
GLI2 https://ghr.nlm.nih.gov/gene/GLI2 db key
related-gene gene-symbol ghr-page GTR C1835820
html:p NODAL https://ghr.nlm.nih.gov/gene/NODAL db key
related-gene gene-symbol ghr-page GTR C1836254
PTCH1 https://ghr.nlm.nih.gov/gene/PTCH1 db key
related-gene gene-symbol ghr-page GTR C1840528
SHH https://ghr.nlm.nih.gov/gene/SHH db key
related-gene gene-symbol ghr-page GTR C1840529
SIX3 https://ghr.nlm.nih.gov/gene/SIX3 db key
related-gene gene-symbol ghr-page GTR C1853830
TDGF1 https://ghr.nlm.nih.gov/gene/TDGF1 db key
related-gene gene-symbol ghr-page GTR C1856096
html:p TGIF1 https://ghr.nlm.nih.gov/gene/TGIF1 db key
related-gene gene-symbol ghr-page GTR C1864827
ZIC2 https://ghr.nlm.nih.gov/gene/ZIC2 db key
GTR C2675857
db key
GTR CN120371
db key
html:p GeneReviews hpe-overview
db key
ICD-10-CM Q04.2
db key
MeSH D016142
db key
OMIM 142945
db key
OMIM 142946
db key
OMIM 157170
db key
html:p OMIM 236100
db key
OMIM 605934
db key
OMIM 609408
db key
OMIM 609637
db key
OMIM 610828
db key
OMIM 610829
db key
Orphanet 2162
db key
SNOMED CT 253136007
db key
SNOMED CT 253137003
db key
SNOMED CT 253138008
db key
related-gene-list SNOMED CT 30915001
Nonsyndromic paraganglioma https://ghr.nlm.nih.gov/condition/nonsyndromic-paraganglioma It is estimated that the prevalence of pheochromocytoma is 1 in 500,000 html:p autosomal dominant KIF1B https://ghr.nlm.nih.gov/gene/KIF1B chemodectoma db key 2011-10 2017-12-29
people, and the prevalence of other paragangliomas is 1 in 1 million people. related-gene gene-symbol ghr-page GTR C0031511
These statistics include syndromic and nonsyndromic paraganglioma and RET https://ghr.nlm.nih.gov/gene/RET db key
pheochromocytoma. related-gene gene-symbol ghr-page MeSH D010235
SDHA https://ghr.nlm.nih.gov/gene/SDHA db key
related-gene gene-symbol ghr-page OMIM 171300
SDHB https://ghr.nlm.nih.gov/gene/SDHB db key
html:p related-gene gene-symbol ghr-page Orphanet 717
SDHD https://ghr.nlm.nih.gov/gene/SDHD db key
related-gene gene-symbol ghr-page Orphanet 94080
TMEM127 https://ghr.nlm.nih.gov/gene/TMEM127 db key
html:p related-gene gene-symbol ghr-page SNOMED CT 716857003
VHL https://ghr.nlm.nih.gov/gene/VHL
html:p
html:p
related-gene-list
Noonan syndrome https://ghr.nlm.nih.gov/condition/noonan-syndrome Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people. html:p autosomal dominant A2ML1 https://ghr.nlm.nih.gov/gene/A2ML1 familial Turner syndrome db key 2016-05 2017-12-29
related-gene gene-symbol ghr-page female pseudo-Turner syndrome GTR C0028326
BRAF https://ghr.nlm.nih.gov/gene/BRAF male Turner syndrome db key
html:p related-gene gene-symbol ghr-page Noonan-Ehmke syndrome GTR C0041409
KRAS https://ghr.nlm.nih.gov/gene/KRAS Noonan's syndrome db key
related-gene gene-symbol ghr-page NS GTR C1853120
LZTR1 https://ghr.nlm.nih.gov/gene/LZTR1 pseudo-Ullrich-Turner syndrome db key
related-gene gene-symbol ghr-page Turner-like syndrome GTR C1854469
MAP2K1 https://ghr.nlm.nih.gov/gene/MAP2K1 Turner phenotype with normal karyotype db key
related-gene gene-symbol ghr-page Turner syndrome in female with X chromosome GTR C1860991
NRAS https://ghr.nlm.nih.gov/gene/NRAS Ullrich-Noonan syndrome db key
html:p related-gene gene-symbol ghr-page GTR C1969057
PTPN11 https://ghr.nlm.nih.gov/gene/PTPN11 db key
related-gene gene-symbol ghr-page GTR C2750732
RAF1 https://ghr.nlm.nih.gov/gene/RAF1 db key
related-gene gene-symbol ghr-page GTR C3150970
html:p RASA2 https://ghr.nlm.nih.gov/gene/RASA2 db key
related-gene gene-symbol ghr-page GTR C3809233
RIT1 https://ghr.nlm.nih.gov/gene/RIT1 db key
html:p related-gene gene-symbol ghr-page GTR C4225280
RRAS https://ghr.nlm.nih.gov/gene/RRAS db key
related-gene gene-symbol ghr-page GTR C4225282
SOS1 https://ghr.nlm.nih.gov/gene/SOS1 db key
related-gene gene-symbol ghr-page GeneReviews noonan
html:p SOS2 https://ghr.nlm.nih.gov/gene/SOS2 db key
ICD-10-CM Q87.1
db key
MeSH D009634
db key
html:p OMIM 163950
db key
OMIM 605275
db key
OMIM 609942
db key
html:p OMIM 610733
db key
OMIM 611553
db key
OMIM 613224
db key
OMIM 613706
db key
html:p OMIM 615355
db key
OMIM 616559
db key
html:p OMIM 616564
db key
Orphanet 648
db key
SNOMED CT 205824006
related-gene-list
Noonan syndrome with multiple lentigines https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines Noonan syndrome with multiple lentigines is thought to be a rare condition; html:p autosomal dominant BRAF https://ghr.nlm.nih.gov/gene/BRAF cardio-cutaneous syndrome db key 2016-06 2017-12-29
approximately 200 cases have been reported worldwide. related-gene gene-symbol ghr-page cardiomyopathic lentiginosis GTR C0175704
MAP2K1 https://ghr.nlm.nih.gov/gene/MAP2K1 diffuse lentiginosis db key
related-gene gene-symbol ghr-page lentiginosis profusa GTR C1969056
PTPN11 https://ghr.nlm.nih.gov/gene/PTPN11 LEOPARD syndrome db key
related-gene gene-symbol ghr-page Moynahan syndrome GTR C3150971
RAF1 https://ghr.nlm.nih.gov/gene/RAF1 multiple lentigines syndrome db key
NSML GTR CN074218
progressive cardiomyopathic lentiginosis db key
GeneReviews leopard
db key
MeSH D044542
html:p db key
OMIM 151100
db key
OMIM 611554
db key
OMIM 613707
db key
Orphanet 500
html:p db key
SNOMED CT 111306001
db key
SNOMED CT 45167004
html:p
html:p
html:p
html:p
related-gene-list
Norrie disease https://ghr.nlm.nih.gov/condition/norrie-disease Norrie disease is a rare disorder; its exact incidence is unknown. It is html:p X-linked recessive NDP https://ghr.nlm.nih.gov/gene/NDP Anderson-Warburg syndrome db key 2007-03 2017-12-29
not associated with any specific racial or ethnic group. Atrophia bulborum hereditaria GTR C0266526
congenital progressive oculo-acoustico-cerebral degeneration db key
Episkopi blindness GeneReviews norrie
Fetal iritis syndrome db key
Norrie syndrome MeSH D015785
Norrie-Warburg syndrome db key
Norrie's disease OMIM 310600
html:p Oligophrenia microphthalmus db key
pseudoglioma congenita Orphanet 649
Whitnall-Norman syndrome db key
SNOMED CT 15228007
related-gene-list
North American Indian childhood cirrhosis https://ghr.nlm.nih.gov/condition/north-american-indian-childhood-cirrhosis North American Indian childhood cirrhosis has been found only in children html:p autosomal recessive UTP4 https://ghr.nlm.nih.gov/gene/UTP4 NAIC db key 2011-03 2017-12-29
of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At GTR C1858051
least 30 affected individuals from this population have been reported. db key
MeSH D008103
db key
OMIM 604901
db key
Orphanet 168583
db key
related-gene-list SNOMED CT 699189004
Ochoa syndrome https://ghr.nlm.nih.gov/condition/ochoa-syndrome Ochoa syndrome is a rare disorder. About 150 cases have been reported in html:p autosomal recessive HPSE2 https://ghr.nlm.nih.gov/gene/HPSE2 hydronephrosis-inverted smile db key 2012-03 2017-12-29
the medical literature. hydronephrosis with peculiar facial expression GTR C0403555
html:p inverted smile and occult neuropathic bladder db key
inverted smile-neurogenic bladder GeneReviews urofacial
partial facial palsy with urinary abnormalities db key
UFS MeSH D000015
urofacial Ochoa's syndrome db key
urofacial syndrome OMIM 236730
db key
Orphanet 2704
db key
SNOMED CT 236533008
html:p
html:p
related-gene-list
Ocular albinism https://ghr.nlm.nih.gov/condition/ocular-albinism The most common form of this disorder, ocular albinism type 1, affects at html:p autosomal dominant GPR143 https://ghr.nlm.nih.gov/gene/GPR143 albinism, ocular db key 2017-11 2017-12-29
least 1 in 60,000 males. The classic signs and symptoms of this condition are memo OA GTR C0268505
much less common in females. autosomal recessive XLOA db key
memo GTR C0342684
html:p X-linked dominant db key
GTR C1845069
db key
GTR C1863198
db key
GeneReviews x-oa
db key
ICD-10-CM E70.31
html:p db key
ICD-10-CM E70.310
db key
ICD-10-CM E70.311
html:p db key
ICD-10-CM E70.318
db key
ICD-10-CM E70.319
db key
MeSH D016117
db key
OMIM 103470
db key
OMIM 300500
db key
OMIM 300650
db key
Orphanet 54
db key
Orphanet 284804
db key
SNOMED CT 26399002
db key
related-gene-list SNOMED CT 78642008
Oculocutaneous albinism https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism Overall, an estimated 1 in 20,000 people worldwide are born with html:p autosomal recessive LRMDA https://ghr.nlm.nih.gov/gene/LRMDA albinism, oculocutaneous db key 2015-10 2017-12-29
oculocutaneous albinism. The condition affects people in many ethnic groups and related-gene gene-symbol ghr-page OCA GTR C0078918
geographical regions. Types 1 and 2 are the most common forms of this MC1R https://ghr.nlm.nih.gov/gene/MC1R db key
condition; types 3 and 4 are less common. Type 2 occurs more frequently in related-gene gene-symbol ghr-page GTR C0268494
African Americans, some Native American groups, and people from sub-Saharan OCA2 https://ghr.nlm.nih.gov/gene/OCA2 db key
Africa. Type 3, specifically rufous oculocutaneous albinism, has been described related-gene gene-symbol ghr-page GTR C0268495
primarily in people from southern Africa. Studies suggest that type 4 occurs SLC24A5 https://ghr.nlm.nih.gov/gene/SLC24A5 db key
more frequently in the Japanese and Korean populations than in people from other related-gene gene-symbol ghr-page GTR C1847024
parts of the world. SLC45A2 https://ghr.nlm.nih.gov/gene/SLC45A2 db key
related-gene gene-symbol ghr-page GTR C1847836
html:p TYR https://ghr.nlm.nih.gov/gene/TYR db key
related-gene gene-symbol ghr-page GTR C1859932
TYRP1 https://ghr.nlm.nih.gov/gene/TYRP1 db key
GTR C3808786
db key
GTR C3888401
db key
GTR CN119529
db key
GeneReviews oca1
db key
html:p GeneReviews oca2
db key
GeneReviews oca4
db key
ICD-10-CM E70.32
db key
ICD-10-CM E70.320
db key
ICD-10-CM E70.321
db key
ICD-10-CM E70.328
db key
ICD-10-CM E70.329
db key
MeSH D016115
db key
OMIM 113750
db key
OMIM 203100
db key
OMIM 203200
db key
OMIM 203290
db key
OMIM 606574
db key
OMIM 606952
db key
OMIM 615179
db key
OMIM 615312
db key
Orphanet 55
db key
SNOMED CT 11160000
db key
SNOMED CT 26336006
db key
SNOMED CT 63450009
db key
SNOMED CT 63844009
db key
related-gene-list SNOMED CT 6483008
Oculodentodigital dysplasia https://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia The exact incidence of oculodentodigital dysplasia is unknown. It has been html:p autosomal dominant GJA1 https://ghr.nlm.nih.gov/gene/GJA1 oculo-dento-digital dysplasia db key 2009-02 2017-12-29
diagnosed in fewer than 1,000 people worldwide. More cases are likely memo oculo-dento-osseous dysplasia GTR C0812437
undiagnosed. autosomal recessive oculodentodigital syndrome db key
oculodentoosseous dysplasia MeSH D004476
ODD syndrome db key
ODDD OMIM 164200
ODOD db key
osseous-oculo-dental dysplasia Orphanet 2710
html:p db key
SNOMED CT 254138001
db key
SNOMED CT 254139009
db key
SNOMED CT 38215007
html:p
related-gene-list
Oculofaciocardiodental syndrome https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome OFCD syndrome is very rare; the incidence is estimated to be less than 1 in html:p X-linked dominant BCOR https://ghr.nlm.nih.gov/gene/BCOR MCOPS2 db key 2008-05 2017-12-29
1 million people. Microphthalmia, cataracts, radiculomegaly, and septal s GTR C1846265
Microphthalmia, syndromic 2 db key
html:p Oculo-facio-cardio-dental syndrome MeSH D008850
OFCD syndrome db key
MeSH D015785
db key
OMIM 300166
html:p db key
Orphanet 2712
db key
SNOMED CT 699300009
html:p
html:p
related-gene-list
Oculopharyngeal muscular dystrophy https://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy In Europe, the prevalence of oculopharyngeal muscular dystrophy is html:p autosomal dominant PABPN1 https://ghr.nlm.nih.gov/gene/PABPN1 Muscular Dystrophy, Oculopharyngeal db key 2008-12 2017-12-29
estimated to be 1 in 100,000 people. The autosomal dominant form of this memo Oculopharyngeal dystrophy GTR C0270952
condition is much more common in the French-Canadian population of the Canadian autosomal recessive OPMD db key
province of Quebec, where it is estimated to affect 1 in 1,000 individuals. Progressive muscular dystrophy, oculopharyngeal type GeneReviews opmd
Autosomal dominant oculopharyngeal muscular dystrophy is also seen more db key
frequently in the Bukharan (Central Asian) Jewish population of Israel, ICD-10-CM G71.0
affecting 1 in 600 people.The autosomal recessive form of this condition is very db key
rare; only a few cases of autosomal recessive oculopharyngeal muscular MeSH D039141
dystrophy have been identified. db key
html:p OMIM 164300
db key
Orphanet 270
db key
SNOMED CT 77097004
html:p
related-gene-list
Ohdo syndrome, Maat-Kievit-Brunner type https://ghr.nlm.nih.gov/condition/ohdo-syndrome-maat-kievit-brunner-type The Maat-Kievit-Brunner type of Ohdo syndrome is a very rare condition, html:p X-linked recessive MED12 https://ghr.nlm.nih.gov/gene/MED12 blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type db key 2013-04 2017-12-29
with only a few affected individuals reported in the medical literature. BMRS, MKB type GTR C3698541
Ohdo syndrome, MKB type db key
html:p X-linked Ohdo syndrome MeSH D000015
db key
OMIM 300895
html:p db key
Orphanet 293707
db key
SNOMED CT 699297004
html:p
related-gene-list
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant https://ghr.nlm.nih.gov/condition/ohdo-syndrome-say-barber-biesecker-young-simps The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 html:p autosomal dominant KAT6B https://ghr.nlm.nih.gov/gene/KAT6B blepharophimosis and mental retardation syndrome, db key 2013-02 2017-12-29
on-variant per million people. At least 19 cases have been reported in the medical Say-Barber/Biesecker/Young-Simpson type GTR C1863557
literature. blepharophimosis- deficit syndrome, db key
Say-Barber/Biesecker/Young-Simpson type GeneReviews kat6b-dis
html:p BMRS SBBYS db key
Ohdo syndrome, Say-Barber-Biesecker variant MeSH D000015
html:p Ohdo syndrome, SBBYS variant db key
Say-Barber-Biesecker-Young-Simpson syndrome OMIM 603736
Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome db key
SBBYS variant of Ohdo syndrome Orphanet 2728
SBBYSS db key
Young-Simpson syndrome SNOMED CT 699298009
html:p
html:p
related-gene-list
Ollier disease https://ghr.nlm.nih.gov/condition/ollier-disease Ollier disease is estimated to occur in 1 in 100,000 people. html:p not inherited IDH1 https://ghr.nlm.nih.gov/gene/IDH1 dyschondroplasia db key 2016-02 2017-12-29
related-gene gene-symbol ghr-page enchondromatosis GTR C0014084
IDH2 https://ghr.nlm.nih.gov/gene/IDH2 enchondromatosis, multiple, Ollier type db key
multiple cartilaginous enchondroses ICD-10-CM Q78.4
multiple enchondromatosis db key
Ollier's syndrome MeSH D004687
html:p db key
OMIM 166000
db key
Orphanet 296
db key
SNOMED CT 268274005
html:p
html:p
html:p
related-gene-list
Omenn syndrome https://ghr.nlm.nih.gov/condition/omenn-syndrome Overall, the various forms of SCID are estimated to affect 1 in 75,000 to html:p autosomal recessive CARD11 https://ghr.nlm.nih.gov/gene/CARD11 familial reticuloendotheliosis db key 2017-02 2017-12-29
100,000 newborns. The exact prevalence of Omenn syndrome is unknown. related-gene gene-symbol ghr-page histiocytic medullary reticulosis GTR C1801959
DCLRE1C https://ghr.nlm.nih.gov/gene/DCLRE1C Omenn's syndrome db key
related-gene gene-symbol ghr-page ICD-10-CM D81.2
IL7R https://ghr.nlm.nih.gov/gene/IL7R db key
related-gene gene-symbol ghr-page MeSH D016511
LIG4 https://ghr.nlm.nih.gov/gene/LIG4 db key
related-gene gene-symbol ghr-page OMIM 603554
RAG1 https://ghr.nlm.nih.gov/gene/RAG1 db key
html:p related-gene gene-symbol ghr-page Orphanet 39041
RAG2 https://ghr.nlm.nih.gov/gene/RAG2 db key
SNOMED CT 307650006
db key
SNOMED CT 722067005
html:p
related-gene-list
Ophthalmo-acromelic syndrome https://ghr.nlm.nih.gov/condition/ophthalmo-acromelic-syndrome The prevalence of ophthalmo-acromelic syndrome is not known; approximately html:p autosomal recessive SMOC1 https://ghr.nlm.nih.gov/gene/SMOC1 anophthalmia-syndactyly db key 2014-03 2017-12-29
35 cases have been reported in the medical literature. anophthalmia-Waardenburg syndrome GTR C0599973
anophthalmos-limb anomalies syndrome db key
anophthalmos with limb anomalies MeSH D000853
microphthalmia with limb anomalies db key
OAS OMIM 206920
html:p ophthalmoacromelic syndrome db key
syndactyly-anophthalmos syndrome Orphanet 1106
Waardenburg anophthalmia syndrome db key
SNOMED CT 703403003
related-gene-list
Opioid addiction https://ghr.nlm.nih.gov/condition/opioid-addiction Misuse of prescription opioids and heroin affects more than 2 million html:p pattern unknown ABCB1 https://ghr.nlm.nih.gov/gene/ABCB1 opiate addiction db key 2017-11 2017-12-29
Americans and an estimated 15 million people worldwide each year. The prevalence related-gene gene-symbol ghr-page opiate dependence GTR C1864733
of opioid misuse and addiction is rapidly increasing.In 2016, more than 20,000 AVPR1A https://ghr.nlm.nih.gov/gene/AVPR1A opioid dependence db key
deaths in the United States were caused by an overdose of prescription opioids, related-gene gene-symbol ghr-page GTR CN236652
and another 13,000 deaths resulted from heroin overdose. Drug overdoses are now BDNF https://ghr.nlm.nih.gov/gene/BDNF db key
the leading cause of death in U.S. adults under age 50, and opioids account for related-gene gene-symbol ghr-page ICD-10-CM F11.2
more than half of all drug overdose deaths. COMT https://ghr.nlm.nih.gov/gene/COMT db key
html:p related-gene gene-symbol ghr-page ICD-10-CM F11.20
CSNK1E https://ghr.nlm.nih.gov/gene/CSNK1E db key
related-gene gene-symbol ghr-page ICD-10-CM F11.21
CYP2B6 https://ghr.nlm.nih.gov/gene/CYP2B6 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.22
DRD2 https://ghr.nlm.nih.gov/gene/DRD2 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.23
DRD3 https://ghr.nlm.nih.gov/gene/DRD3 db key
html:p related-gene gene-symbol ghr-page ICD-10-CM F11.24
DRD4 https://ghr.nlm.nih.gov/gene/DRD4 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.25
FKBP5 https://ghr.nlm.nih.gov/gene/FKBP5 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.28
GABRG1 https://ghr.nlm.nih.gov/gene/GABRG1 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.29
GAD1 https://ghr.nlm.nih.gov/gene/GAD1 db key
html:p related-gene gene-symbol ghr-page ICD-10-CM F11.220
GAL https://ghr.nlm.nih.gov/gene/GAL db key
related-gene gene-symbol ghr-page ICD-10-CM F11.221
GRIN2A https://ghr.nlm.nih.gov/gene/GRIN2A db key
related-gene gene-symbol ghr-page ICD-10-CM F11.222
HTR1B https://ghr.nlm.nih.gov/gene/HTR1B db key
related-gene gene-symbol ghr-page ICD-10-CM F11.229
OPRD1 https://ghr.nlm.nih.gov/gene/OPRD1 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.250
OPRK1 https://ghr.nlm.nih.gov/gene/OPRK1 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.251
OPRL1 https://ghr.nlm.nih.gov/gene/OPRL1 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.259
OPRM1 https://ghr.nlm.nih.gov/gene/OPRM1 db key
related-gene gene-symbol ghr-page ICD-10-CM F11.281
PDYN https://ghr.nlm.nih.gov/gene/PDYN db key
related-gene gene-symbol ghr-page ICD-10-CM F11.282
PNOC https://ghr.nlm.nih.gov/gene/PNOC db key
ICD-10-CM F11.288
db key
MeSH D009293
db key
OMIM 610064
db key
SNOMED CT 288861000119108
db key
related-gene-list SNOMED CT 75544000
Opitz G/BBB syndrome https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome X-linked Opitz G/BBB syndrome is thought to affect 1 in 10,000 to 50,000 html:p autosomal dominant MID1 https://ghr.nlm.nih.gov/gene/MID1 hypertelorism-hypospadias sydrome db key 2015-01 2017-12-29
males, although it is likely that this condition is underdiagnosed.The incidence memo related-gene gene-symbol ghr-page hypertelorism with esophageal abnormalities and hypospadias GTR C0175696
of autosomal dominant Opitz G/BBB syndrome is unknown. It is part of a larger X-linked SPECC1L https://ghr.nlm.nih.gov/gene/SPECC1L hypospadias-dysphagia syndrome db key
condition known as 22q11.2 deletion syndrome, which is estimated to affect 1 in related-chromosome name ghr-page Opitz BBB syndrome GTR C1801950
4,000 people. 22 https://ghr.nlm.nih.gov/chromosome/22 Opitz BBB/G syndrome db key
Opitz-Frias syndrome GeneReviews gr_22q11deletion
Opitz G syndrome db key
Opitz syndrome GeneReviews opitz
html:p db key
MeSH D004062
db key
MeSH D040181
db key
OMIM 145410
db key
OMIM 300000
db key
Orphanet 2745
db key
SNOMED CT 81771002
html:p
related-gene-list
Optic atrophy type 1 https://ghr.nlm.nih.gov/condition/optic-atrophy-type-1 Optic atrophy type 1 is estimated to affect 1 in 35,000 people worldwide. html:p autosomal dominant OPA1 https://ghr.nlm.nih.gov/gene/OPA1 ADOA db key 2017-08 2017-12-29
This condition is more common in Denmark, where it affects approximately 1 in autosomal dominant optic atrophy GTR C0338508
10,000 people. autosomal dominant optic atrophy Kjer type db key
DOA GeneReviews opa
dominant optic atrophy db key
Kjer type optic atrophy ICD-10-CM H47.21
Kjer's optic atrophy db key
html:p optic atrophy, autosomal dominant ICD-10-CM H47.22
optic atrophy, hereditary, autosomal dominant db key
optic atrophy, juvenile ICD-10-CM H47.211
html:p optic atrophy, Kjer type db key
ICD-10-CM H47.212
db key
ICD-10-CM H47.213
db key
ICD-10-CM H47.219
db key
MeSH D029241
db key
OMIM 165500
db key
Orphanet 103
db key
related-gene-list SNOMED CT 2065009
Oral-facial-digital syndrome https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to html:p autosomal recessive OFD1 https://ghr.nlm.nih.gov/gene/OFD1 dysplasia linguofacialis db key 2010-02 2017-12-29
250,000 newborns. Type I accounts for the majority of cases of this disorder. memo OFDS GTR C0026363
The other forms of oral-facial-digital syndrome are very rare; most have been X-linked dominant oro-facio-digital syndrome db key
identified in only one or a few families. html:p orodigitofacial dysostosis GTR C0029294
orodigitofacial syndrome db key
orofaciodigital syndrome GTR C0406726
db key
GTR C0406727
db key
html:p GTR C0796100
db key
GTR C0796101
db key
html:p GTR C0796102
db key
GTR C1510460
db key
GTR C1833796
db key
GTR C1868118
html:p db key
GTR C2745997
db key
html:p GTR C2752048
db key
GeneReviews ofd1
db key
MeSH D009958
db key
html:p OMIM 165590
db key
OMIM 174300
db key
OMIM 252100
db key
OMIM 258850
db key
OMIM 258860
db key
OMIM 258865
db key
OMIM 277170
db key
OMIM 300484
db key
OMIM 311200
db key
OMIM 608518
db key
OMIM 612913
db key
Orphanet 2750
db key
Orphanet 2751
db key
Orphanet 2752
db key
Orphanet 2753
db key
Orphanet 2755
db key
Orphanet 2756
db key
Orphanet 2919
db key
Orphanet 141000
db key
Orphanet 141007
db key
Orphanet 90649
db key
related-gene-list SNOMED CT 52868006
Ornithine transcarbamylase deficiency https://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency Estimates of the prevalence of ornithine transcarbamylase deficiency have html:p X-linked recessive OTC https://ghr.nlm.nih.gov/gene/OTC Ornithine Carbamoyltransferase Deficiency Disease db key 2017-10 2017-12-29
ranged from 1 in 14,000 to 1 in 77,000 people. Individuals with the GTR C0268542
neonatal-onset form of the disorder are more likely to be counted in these db key
estimates, because people with the late-onset form are less likely to come to GeneReviews otc-def
medical attention. html:p db key
GeneReviews ucd-overview
db key
ICD-10-CM E72.29
db key
MeSH D020163
db key
OMIM 311250
db key
html:p Orphanet 664
db key
SNOMED CT 80908008
related-gene-list
Ornithine translocase deficiency https://ghr.nlm.nih.gov/condition/ornithine-translocase-deficiency Ornithine translocase deficiency is a very rare disorder. Fewer than 100 html:p autosomal recessive SLC25A15 https://ghr.nlm.nih.gov/gene/SLC25A15 HHH syndrome db key 2006-11 2017-12-29
affected individuals have been reported worldwide. hyperornithinemia-hyperammonemia-homocitrullinemia syndrome GTR C0268540
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome db key
Triple H syndrome GeneReviews hhhs
html:p db key
GeneReviews ucd-overview
db key
MeSH D056806
db key
OMIM 238970
html:p db key
Orphanet 415
db key
SNOMED CT 30287008
related-gene-list
Osteoarthritis https://ghr.nlm.nih.gov/condition/osteoarthritis Osteoarthritis is a very common condition, affecting about 23 percent of html:p pattern unknown ALDH1A2 https://ghr.nlm.nih.gov/gene/ALDH1A2 arthritis, degenerative db key 2017-10 2017-12-29
adults in the United States. In middle age it affects more women than men, but related-gene gene-symbol ghr-page arthropathy GTR C0029408
by about age 70 most people of both sexes have some symptoms of the condition. ASTN2 https://ghr.nlm.nih.gov/gene/ASTN2 degenerative joint disease db key
Severe osteoarthritis is a major contributor to disability worldwide.The related-gene gene-symbol ghr-page degenerative polyarthritis GTR C1835815
prevalence of osteoarthritis has doubled in the United States since the 1940s, COL11A1 https://ghr.nlm.nih.gov/gene/COL11A1 hypertrophic arthritis db key
and research indicates that longer lifespans and higher rates of obesity do not html:p related-gene gene-symbol ghr-page OA GTR C2675609
fully explain the increase. Scientists suggest that other, undetermined features DOT1L https://ghr.nlm.nih.gov/gene/DOT1L osteoarthritis deformans db key
of modern life are involved in the development of the condition. related-gene gene-symbol ghr-page osteoarthrosis ICD-10-CM M15
GDF5 https://ghr.nlm.nih.gov/gene/GDF5 db key
related-gene gene-symbol ghr-page MeSH D010003
MCF2L https://ghr.nlm.nih.gov/gene/MCF2L db key
related-gene gene-symbol ghr-page OMIM 140600
NCOA3 https://ghr.nlm.nih.gov/gene/NCOA3 db key
html:p OMIM 165720
db key
OMIM 607850
db key
OMIM 610839
db key
html:p OMIM 612400
db key
OMIM 612401
db key
SNOMED CT 396275006
related-gene-list
Osteogenesis imperfecta https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta This condition affects an estimated 6 to 7 per 100,000 people worldwide. html:p autosomal dominant COL1A1 https://ghr.nlm.nih.gov/gene/COL1A1 Brittle bone disease db key 2013-04 2017-12-29
Types I and IV are the most common forms of osteogenesis imperfecta, affecting 4 memo related-gene gene-symbol ghr-page Fragilitas ossium GTR C0023931
to 5 per 100,000 people. autosomal recessive COL1A2 https://ghr.nlm.nih.gov/gene/COL1A2 OI db key
related-gene gene-symbol ghr-page Vrolik disease GTR C0029434
CRTAP https://ghr.nlm.nih.gov/gene/CRTAP db key
related-gene gene-symbol ghr-page GTR C0268360
html:p P3H1 https://ghr.nlm.nih.gov/gene/P3H1 db key
GTR C0268362
db key
GTR C0268363
db key
GTR C1850169
db key
html:p GTR C1853162
db key
GTR C1970414
db key
GTR C1970458
db key
html:p GTR C3151211
db key
GTR C3151218
db key
GTR C3151433
db key
GeneReviews oi
db key
ICD-10-CM Q78.0
db key
MeSH D010013
db key
OMIM 166200
db key
OMIM 166210
db key
OMIM 166220
db key
OMIM 259420
db key
OMIM 610682
db key
OMIM 610915
db key
OMIM 610967
db key
OMIM 610968
db key
Orphanet 666
db key
SNOMED CT 205496008
db key
SNOMED CT 205497004
db key
SNOMED CT 254110009
db key
SNOMED CT 385482004
db key
SNOMED CT 385483009
db key
SNOMED CT 78314001
db key
related-gene-list SNOMED CT 86470003
Osteoglophonic dysplasia https://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia Osteoglophonic dysplasia is a rare disorder; its prevalence is unknown. html:p autosomal dominant FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 Fairbank-Keats syndrome db key 2013-07 2017-12-29
Only about 15 cases have been reported in the medical literature. OGD GTR C0432283
osteoglophonic dwarfism db key
MeSH D004392
db key
html:p OMIM 166250
db key
Orphanet 2645
db key
SNOMED CT 254144002
html:p
html:p
related-gene-list
Osteopetrosis https://ghr.nlm.nih.gov/condition/osteopetrosis Autosomal dominant osteopetrosis is the most common form of the disorder, html:p autosomal dominant CA2 https://ghr.nlm.nih.gov/gene/CA2 congenital osteopetrosis db key 2010-09 2017-12-29
affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, memo related-gene gene-symbol ghr-page marble bone disease GTR C0345407
occurring in an estimated 1 in 250,000 people.Other forms of osteopetrosis are autosomal recessive CLCN7 https://ghr.nlm.nih.gov/gene/CLCN7 osteopetroses db key
very rare. Only a few cases of intermediate autosomal osteopetrosis and memo related-gene gene-symbol ghr-page GTR C1833700
OL-EDA-ID have been reported in the medical literature. X-linked recessive IKBKG https://ghr.nlm.nih.gov/gene/IKBKG db key
html:p related-gene gene-symbol ghr-page GTR C1838258
ITGB3 https://ghr.nlm.nih.gov/gene/ITGB3 db key
related-gene gene-symbol ghr-page GTR C1843330
OSTM1 https://ghr.nlm.nih.gov/gene/OSTM1 db key
related-gene gene-symbol ghr-page GTR C1845919
PLEKHM1 https://ghr.nlm.nih.gov/gene/PLEKHM1 db key
related-gene gene-symbol ghr-page GTR C1850126
TCIRG1 https://ghr.nlm.nih.gov/gene/TCIRG1 db key
related-gene gene-symbol ghr-page GTR C1850127
html:p TNFRSF11A https://ghr.nlm.nih.gov/gene/TNFRSF11A db key
related-gene gene-symbol ghr-page GTR C1968603
TNFSF11 https://ghr.nlm.nih.gov/gene/TNFSF11 db key
GTR C1969093
db key
GTR C1969106
db key
GTR C2676766
db key
GeneReviews clcn7
html:p db key
ICD-10-CM Q78.2
db key
MeSH D010022
db key
html:p OMIM 166600
db key
OMIM 259700
db key
OMIM 259710
db key
OMIM 259720
db key
html:p OMIM 259730
db key
OMIM 300301
db key
OMIM 600329
db key
OMIM 611490
db key
OMIM 611497
db key
OMIM 612301
db key
Orphanet 2781
db key
SNOMED CT 1926006
db key
SNOMED CT 254121000
db key
related-gene-list SNOMED CT 254122007
Osteoporosis-pseudoglioma syndrome https://ghr.nlm.nih.gov/condition/osteoporosis-pseudoglioma-syndrome Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in html:p autosomal recessive LRP5 https://ghr.nlm.nih.gov/gene/LRP5 OPPG db key 2013-01 2017-12-29
approximately 1 in 2 million people. osteogenesis imperfecta, ocular form GTR C0432252
db key
MeSH D010024
db key
OMIM 259770
db key
Orphanet 2788
db key
SNOMED CT 254112001
html:p
html:p
related-gene-list
Otopalatodigital syndrome type 1 https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-1 Otopalatodigital syndrome type 1 is a rare disorder, affecting fewer than 1 html:p X-linked dominant FLNA https://ghr.nlm.nih.gov/gene/FLNA cranioorodigital syndrome db key 2007-11 2017-12-29
in every 100,000 individuals. Its specific incidence is unknown. faciopalatoosseous syndrome GTR C0265251
FPO db key
OPD syndrome, type 1 GeneReviews opd
oto-palato-digital syndrome, type I db key
Taybi syndrome MeSH D010009
db key
OMIM 311300
html:p db key
Orphanet 669
db key
SNOMED CT 54036001
html:p
related-gene-list
Otopalatodigital syndrome type 2 https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2 Otopalatodigital syndrome type 2 is a rare disorder, affecting fewer than 1 html:p X-linked dominant FLNA https://ghr.nlm.nih.gov/gene/FLNA cranioorodigital syndrome db key 2007-11 2017-12-29
in every 100,000 individuals. Its specific incidence is unknown. faciopalatoosseous syndrome GTR C1844696
FPO db key
OPD syndrome, type 2 GeneReviews opd
oto-palato-digital syndrome, type II db key
Taybi syndrome MeSH D010009
db key
OMIM 304120
db key
Orphanet 669
html:p db key
SNOMED CT 42432003
html:p
html:p
related-gene-list
Otospondylomegaepiphyseal dysplasia https://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia This condition is rare; its prevalence is unknown. Only a few families with html:p autosomal recessive COL11A2 https://ghr.nlm.nih.gov/gene/COL11A2 chondrodystrophy with sensorineural deafness db key 2016-05 2017-12-29
OSMED worldwide have been described in the medical literature. Insley-Astley syndrome GTR C0432210
mega-epiphyseal dwarfism db key
Nance-Insley syndrome MeSH D003095
Nance-Sweeney chondrodysplasia db key
OSMED OMIM 215150
oto-spondylo-megaepiphyseal dysplasia db key
Orphanet 1427
db key
SNOMED CT 254060000
html:p
html:p
related-gene-list
Otulipenia https://ghr.nlm.nih.gov/condition/otulipenia The prevalence of otulipenia is not known. At least four cases have been html:p autosomal recessive OTULIN https://ghr.nlm.nih.gov/gene/OTULIN AIPDS db key 2016-12 2017-12-29
reported in the medical literature. autoinflammation, panniculitis, and dermatosis syndrome GTR C4310614
ORAS db key
OTULIN-related autoinflammatory syndrome MeSH D056660
db key
OMIM 617099
html:p
related-gene-list
Ovarian cancer https://ghr.nlm.nih.gov/condition/ovarian-cancer Ovarian cancer is diagnosed in about 22,000 women in the United States each html:p autosomal dominant AKT1 https://ghr.nlm.nih.gov/gene/AKT1 cancer of the ovary db key 2015-10 2017-12-29
year. A woman's lifetime risk of developing ovarian cancer is about 1 in 75. memo related-gene gene-symbol ghr-page malignant neoplasm of the ovary GTR C1140680
not inherited BARD1 https://ghr.nlm.nih.gov/gene/BARD1 malignant tumor of the ovary db key
memo related-gene gene-symbol ghr-page ovarian carcinoma GeneReviews brca1
pattern unknown BRCA1 https://ghr.nlm.nih.gov/gene/BRCA1 db key
html:p related-gene gene-symbol ghr-page ICD-10-CM C56
BRCA2 https://ghr.nlm.nih.gov/gene/BRCA2 db key
related-gene gene-symbol ghr-page ICD-10-CM C56.1
BRIP1 https://ghr.nlm.nih.gov/gene/BRIP1 db key
related-gene gene-symbol ghr-page ICD-10-CM C56.2
CDH1 https://ghr.nlm.nih.gov/gene/CDH1 db key
html:p related-gene gene-symbol ghr-page ICD-10-CM C56.9
CHEK2 https://ghr.nlm.nih.gov/gene/CHEK2 db key
related-gene gene-symbol ghr-page MeSH D010051
CTNNB1 https://ghr.nlm.nih.gov/gene/CTNNB1 db key
related-gene gene-symbol ghr-page OMIM 167000
MLH1 https://ghr.nlm.nih.gov/gene/MLH1 db key
related-gene gene-symbol ghr-page OMIM 604370
MRE11 https://ghr.nlm.nih.gov/gene/MRE11 db key
related-gene gene-symbol ghr-page OMIM 607893
html:p MSH2 https://ghr.nlm.nih.gov/gene/MSH2 db key
related-gene gene-symbol ghr-page OMIM 612555
MSH6 https://ghr.nlm.nih.gov/gene/MSH6 db key
html:p related-gene gene-symbol ghr-page OMIM 613399
NBN https://ghr.nlm.nih.gov/gene/NBN db key
related-gene gene-symbol ghr-page OMIM 614291
OPCML https://ghr.nlm.nih.gov/gene/OPCML db key
related-gene gene-symbol ghr-page Orphanet 213500
PALB2 https://ghr.nlm.nih.gov/gene/PALB2 db key
related-gene gene-symbol ghr-page SNOMED CT 363443007
html:p PIK3CA https://ghr.nlm.nih.gov/gene/PIK3CA
related-gene gene-symbol ghr-page
PMS2 https://ghr.nlm.nih.gov/gene/PMS2
related-gene gene-symbol ghr-page
PRKN https://ghr.nlm.nih.gov/gene/PRKN
html:p related-gene gene-symbol ghr-page
RAD50 https://ghr.nlm.nih.gov/gene/RAD50
related-gene gene-symbol ghr-page
html:p RAD51C https://ghr.nlm.nih.gov/gene/RAD51C
related-gene gene-symbol ghr-page
RAD51D https://ghr.nlm.nih.gov/gene/RAD51D
related-gene gene-symbol ghr-page
STK11 https://ghr.nlm.nih.gov/gene/STK11
related-gene gene-symbol ghr-page
TP53 https://ghr.nlm.nih.gov/gene/TP53
related-gene-list
Pachyonychia congenita https://ghr.nlm.nih.gov/condition/pachyonychia-congenita Although the prevalence of pachyonychia congenita is unknown, it appears to html:p autosomal dominant KRT6A https://ghr.nlm.nih.gov/gene/KRT6A congenital pachyonychia db key 2015-12 2017-12-29
be rare. There are probably several thousand people worldwide with this related-gene gene-symbol ghr-page Jackson-Lawler syndrome (PC-2) GTR C0265334
disorder. KRT6B https://ghr.nlm.nih.gov/gene/KRT6B Jadassohn-Lewandowski syndrome (PC-1) db key
html:p related-gene gene-symbol ghr-page pachyonychia congenita syndrome GTR C1706595
KRT6C https://ghr.nlm.nih.gov/gene/KRT6C db key
related-gene gene-symbol ghr-page GTR C1721007
KRT16 https://ghr.nlm.nih.gov/gene/KRT16 db key
related-gene gene-symbol ghr-page GTR C3714949
KRT17 https://ghr.nlm.nih.gov/gene/KRT17 db key
html:p GeneReviews pc
db key
MeSH D053549
db key
OMIM 167200
db key
OMIM 167210
db key
OMIM 615726
db key
OMIM 615728
db key
html:p Orphanet 2309
db key
SNOMED CT 39427000
related-gene-list
Paget disease of bone https://ghr.nlm.nih.gov/condition/paget-disease-of-bone Classic Paget disease of bone occurs in approximately 1 percent of people html:p autosomal dominant SQSTM1 https://ghr.nlm.nih.gov/gene/SQSTM1 osseous Paget's disease db key 2015-09 2017-12-29
older than 40 in the United States. Scientists estimate that about 1 million related-gene gene-symbol ghr-page osteitis deformans GTR C0029401
people in this country have the disease. It is most common in people of western html:p TNFRSF11A https://ghr.nlm.nih.gov/gene/TNFRSF11A Paget disease, bone db key
European heritage.Early-onset Paget disease of bone is much rarer. This form of related-gene gene-symbol ghr-page Paget's disease of bone GTR C0268414
the disorder has been reported in only a few families. TNFRSF11B https://ghr.nlm.nih.gov/gene/TNFRSF11B PDB db key
GTR C1853473
html:p db key
GTR C4016837
db key
GTR C4085250
db key
GTR C4085252
db key
ICD-10-CM M88
html:p db key
ICD-10-CM M88.0
db key
ICD-10-CM M88.1
db key
ICD-10-CM M88.8
html:p db key
ICD-10-CM M88.9
db key
html:p ICD-10-CM M88.81
db key
ICD-10-CM M88.82
db key
ICD-10-CM M88.83
db key
ICD-10-CM M88.84
db key
ICD-10-CM M88.85
db key
ICD-10-CM M88.86
db key
ICD-10-CM M88.87
db key
ICD-10-CM M88.88
db key
ICD-10-CM M88.89
db key
ICD-10-CM M88.811
db key
ICD-10-CM M88.812
db key
ICD-10-CM M88.819
db key
ICD-10-CM M88.821
db key
ICD-10-CM M88.822
db key
ICD-10-CM M88.829
db key
ICD-10-CM M88.831
db key
ICD-10-CM M88.832
db key
ICD-10-CM M88.839
db key
ICD-10-CM M88.841
db key
ICD-10-CM M88.842
db key
ICD-10-CM M88.849
db key
ICD-10-CM M88.851
db key
ICD-10-CM M88.852
db key
ICD-10-CM M88.859
db key
ICD-10-CM M88.861
db key
ICD-10-CM M88.862
db key
ICD-10-CM M88.869
db key
ICD-10-CM M88.871
db key
ICD-10-CM M88.872
db key
ICD-10-CM M88.879
db key
MeSH D010001
db key
OMIM 167250
db key
OMIM 239000
db key
OMIM 602080
db key
OMIM 606263
db key
Orphanet 280110
db key
related-gene-list SNOMED CT 2089002
Pallister-Hall syndrome https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome This condition is very rare; its prevalence is unknown. html:p autosomal dominant GLI3 https://ghr.nlm.nih.gov/gene/GLI3 Hall-Pallister syndrome db key 2016-11 2017-12-29
PHS GTR C0265220
db key
GeneReviews phs
db key
MeSH D054975
db key
OMIM 146510
db key
Orphanet 672
db key
SNOMED CT 56677004
related-gene-list
Pallister-Killian mosaic syndrome https://ghr.nlm.nih.gov/condition/pallister-killian-mosaic-syndrome Pallister-Killian mosaic syndrome appears to be a rare condition, although html:p not inherited 12 https://ghr.nlm.nih.gov/chromosome/12 isochromosome 12p syndrome db key 2015-06 2017-12-29
its exact prevalence is unknown. This disorder may be underdiagnosed because it Pallister-Killian syndrome GTR C0265449
can be difficult to detect in people with mild signs and symptoms. As a result, PKS db key
most diagnoses are made in children with more severe features of the disorder. Teschler-Nicola/Killian syndrome MeSH D025063
More than 150 people with Pallister-Killian mosaic syndrome have been reported tetrasomy 12p, mosaic db key
in the medical literature. html:p OMIM 601803
db key
Orphanet 884
db key
SNOMED CT 9527009
html:p
html:p
html:p
html:p
related-gene-list
Palmoplantar keratoderma with deafness https://ghr.nlm.nih.gov/condition/palmoplantar-keratoderma-with-deafness Palmoplantar keratoderma with deafness is a rare disorder; its prevalence html:p autosomal dominant GJB2 https://ghr.nlm.nih.gov/gene/GJB2 palmoplantar hyperkeratosis-deafness syndrome db key 2012-11 2017-12-29
is unknown. At least 10 affected families have been identified. memo related-gene gene-symbol ghr-page palmoplantar hyperkeratosis-hearing loss syndrome GTR C1835672
mitochondrial MT-TS1 https://ghr.nlm.nih.gov/gene/MT-TS1 palmoplantar keratoderma-deafness syndrome db key
palmoplantar keratoderma-hearing loss syndrome MeSH D007645
PPK-deafness syndrome db key
PPK with deafness OMIM 148350
html:p db key
Orphanet 2202
db key
related-gene-list SNOMED CT 722203001
Pantothenate kinase-associated neurodegeneration https://ghr.nlm.nih.gov/condition/pantothenate-kinase-associated-neurodegenerati The precise incidence of this condition is unknown. It is estimated to html:p autosomal recessive PANK2 https://ghr.nlm.nih.gov/gene/PANK2 NBIA1 db key 2015-01 2017-12-29
on affect 1 to 3 per million people worldwide. neurodegeneration with brain iron accumulation type 1 GTR C1846582
PKAN db key
GTR CN043643
db key
GeneReviews pkan
db key
ICD-10-CM G23.0
db key
html:p MeSH D006211
db key
OMIM 234200
db key
OMIM 607236
html:p db key
Orphanet 385
db key
SNOMED CT 2992000
html:p
related-gene-list
Paramyotonia congenita https://ghr.nlm.nih.gov/condition/paramyotonia-congenita Paramyotonia congenita is an uncommon disorder; it is estimated to affect html:p autosomal dominant SCN4A https://ghr.nlm.nih.gov/gene/SCN4A Eulenburg disease db key 2015-08 2017-12-29
fewer than 1 in 100,000 people. paralysis periodica paramyotonia GTR C1868617
paramyotonia congenita of von Eulenburg db key
PMC MeSH D020967
Von Eulenberg's disease db key
OMIM 168300
db key
Orphanet 684
db key
html:p SNOMED CT 41574007
related-gene-list
Parathyroid cancer https://ghr.nlm.nih.gov/condition/parathyroid-cancer Parathyroid cancer is one of the rarest types of cancer. It accounts for html:p autosomal dominant CDC73 https://ghr.nlm.nih.gov/gene/CDC73 cancer of the parathyroid db key 2017-09 2017-12-29
0.005 percent of all cancers, with about 1,000 cases reported in the medical memo cancer of the parathyroid gland GTR C0687150
literature. not inherited carcinoma of parathyroid gland db key
malignant neoplasm of parathyroid GeneReviews hrpt2
html:p malignant neoplasm of parathyroid gland db key
malignant parathyroid gland neoplasm ICD-10-CM C75.0
malignant parathyroid gland tumor db key
malignant parathyroid neoplasm MeSH D010282
html:p malignant parathyroid tumor db key
malignant tumor of parathyroid OMIM 608266
malignant tumor of parathyroid gland db key
parathyroid adenocarcinoma Orphanet 143
parathyroid carcinoma db key
parathyroid gland cancer SNOMED CT 363481002
parathyroid gland carcinoma
parathyroid neoplasms
html:p
html:p
html:p
related-gene-list
Parkes Weber syndrome https://ghr.nlm.nih.gov/condition/parkes-weber-syndrome Parkes Weber syndrome is a rare condition; its exact prevalence is unknown. html:p autosomal dominant RASA1 https://ghr.nlm.nih.gov/gene/RASA1 Parkes-Weber syndrome db key 2011-08 2017-12-29
PKWS GTR CN074207
db key
GeneReviews rasa1-rel-dis
db key
html:p MeSH D054079
db key
OMIM 608355
db key
Orphanet 90307
db key
SNOMED CT 234143003
html:p
html:p
related-gene-list
Parkinson disease https://ghr.nlm.nih.gov/condition/parkinson-disease Parkinson disease affects more than 1 million people in North America and html:p autosomal dominant ATP13A2 https://ghr.nlm.nih.gov/gene/ATP13A2 Parkinson's disease db key 2012-05 2017-12-29
more than 4 million people worldwide. In the United States, Parkinson disease memo related-gene gene-symbol ghr-page PD GTR C1838867
occurs in approximately 13 per 100,000 people, and about 60,000 new cases are autosomal recessive GBA https://ghr.nlm.nih.gov/gene/GBA primary parkinsonism db key
identified each year.The late-onset form is the most common type of Parkinson html:p related-gene gene-symbol ghr-page GTR C1843211
disease, and the risk of developing this condition increases with age. Because LRRK2 https://ghr.nlm.nih.gov/gene/LRRK2 db key
more people are living longer, the number of people with this disease is related-gene gene-symbol ghr-page GTR C1845165
expected to increase in coming decades. PARK7 https://ghr.nlm.nih.gov/gene/PARK7 db key
related-gene gene-symbol ghr-page GTR C1846862
PINK1 https://ghr.nlm.nih.gov/gene/PINK1 db key
related-gene gene-symbol ghr-page GTR C1847360
html:p PRKN https://ghr.nlm.nih.gov/gene/PRKN db key
related-gene gene-symbol ghr-page GTR C1850100
SNCA https://ghr.nlm.nih.gov/gene/SNCA db key
related-gene gene-symbol ghr-page GTR C1853202
UCHL1 https://ghr.nlm.nih.gov/gene/UCHL1 db key
html:p related-gene gene-symbol ghr-page GTR C1853445
VPS35 https://ghr.nlm.nih.gov/gene/VPS35 db key
GTR C1853833
db key
GTR C1854182
db key
GTR C1865581
db key
GTR C1868595
db key
GTR C1868675
db key
GTR C2751012
db key
GTR C2751842
db key
GTR C3150899
db key
GTR C3160718
db key
GTR C3280133
db key
GTR C3280271
db key
GeneReviews jpd
db key
GeneReviews lrrk2
db key
GeneReviews parkinson-overview
db key
GeneReviews pink1-pd
db key
GeneReviews vps35-pd
db key
ICD-10-CM G20
db key
MeSH D010300
db key
OMIM 168600
db key
OMIM 168601
db key
OMIM 260300
db key
OMIM 300557
db key
OMIM 556500
db key
OMIM 600116
db key
OMIM 602404
db key
OMIM 605543
db key
OMIM 605909
db key
OMIM 606324
db key
OMIM 606852
db key
OMIM 607060
db key
OMIM 607688
db key
OMIM 610297
db key
OMIM 612953
db key
OMIM 613164
db key
OMIM 613643
db key
OMIM 614203
db key
OMIM 614251
db key
Orphanet 2828
db key
related-gene-list SNOMED CT 49049000
Paroxysmal extreme pain disorder https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder Paroxysmal extreme pain disorder is a rare condition; approximately 80 html:p autosomal dominant SCN9A https://ghr.nlm.nih.gov/gene/SCN9A familial rectal pain db key 2012-11 2017-12-29
affected individuals have been described in the scientific literature. PEPD GTR C1833661
PEXPD db key
submandibular, ocular, and rectal pain with flushing MeSH D010148
db key
OMIM 167400
db key
Orphanet 46348
db key
SNOMED CT 699190008
html:p
html:p
related-gene-list
Paroxysmal nocturnal hemoglobinuria https://ghr.nlm.nih.gov/condition/paroxysmal-nocturnal-hemoglobinuria Paroxysmal nocturnal hemoglobinuria is a rare disorder, estimated to affect html:p X-linked dominant PIGA https://ghr.nlm.nih.gov/gene/PIGA Hemoglobinuria, Paroxysmal db key 2007-05 2017-12-29
between 1 and 5 per million people. Marchiafava-Micheli Syndrome GTR C0024790
db key
ICD-10-CM D59.5
db key
MeSH D006457
db key
html:p OMIM 311770
db key
SNOMED CT 1963002
html:p
html:p
html:p
html:p
related-gene-list
Partington syndrome https://ghr.nlm.nih.gov/condition/partington-syndrome The prevalence of Partington syndrome is unknown. At least 20 cases have html:p X-linked recessive ARX https://ghr.nlm.nih.gov/gene/ARX MRX36 db key 2017-08 2017-12-29
been described in the medical literature. Partington-Mulley syndrome GTR C0796250
Partington X-linked mental retardation syndrome db key
PRTS MeSH D038901
html:p X-linked deficit-dystonia-dysarthria db key
X-linked mental retardation with dystonic movements, ataxia, and OMIM 309510
db key
Orphanet 94083
html:p db key
SNOMED CT 702412005
html:p
inheritance-pattern-list related-gene-list
PDGFRA-associated chronic eosinophilic leukemia https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemi PDGFRA-associated chronic eosinophilic leukemia is a rare condition; html:p n not inherited ghr-page PDGFRA-associated myeloproliferative neoplasm db-key db key 2015-09 2017-12-29
a however, the exact prevalence is unknown. related-gene https://ghr.nlm.nih.gov/gene/FIP1L1 GTR C0206141
ghr-page db-key db key
related-chromosome https://ghr.nlm.nih.gov/gene/PDGFRA MeSH D017681
ghr-page db-key db key
https://ghr.nlm.nih.gov/chromosome/4 OMIM 607685
html:p db-key db key
Orphanet 168956
db-key db key
SNOMED CT 128835008
db-key db key
SNOMED CT 188733003
html:p
html:p
inheritance-pattern-list related-gene-list
PDGFRB-associated chronic eosinophilic leukemia https://ghr.nlm.nih.gov/condition/pdgfrb-associated-chronic-eosinophilic-leukemi The exact prevalence of PDGFRB-associated chronic eosinophilic leukemia is html:p u pattern unknown ghr-page atypical Philadelphia-negative chronic myeloid leukemia db-key db key 2013-02 2017-12-29
a unknown. For unknown reasons, males are up to nine times more likely than related-gene https://ghr.nlm.nih.gov/gene/ETV6 chronic myelomonocytic leukemia GTR C1851585
females to develop PDGFRB-associated chronic eosinophilic leukemia. ghr-page chronic myeloproliferative disorder with eosinophilia db-key db key
related-chromosome https://ghr.nlm.nih.gov/gene/PDGFRB clonal eosinophilia with chronic myeloproliferative disorder MeSH D017681
ghr-page primary eosinophilia with chronic myeloproliferative disorder db-key db key
related-chromosome https://ghr.nlm.nih.gov/chromosome/5 Orphanet 168950
ghr-page db-key db key
https://ghr.nlm.nih.gov/chromosome/12 SNOMED CT 128835008
db-key db key
SNOMED CT 188733003
db-key db key
SNOMED CT 190055003
db-key db key
related-gene-list SNOMED CT 413836008
Pearson marrow-pancreas syndrome https://ghr.nlm.nih.gov/condition/pearson-marrow-pancreas-syndrome Pearson marrow-pancreas syndrome is a rare condition; its prevalence is html:p not inherited mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna Pearson syndrome db key 2013-05 2017-12-29
unknown. GTR C0342773
db key
GeneReviews kss
db key
MeSH D028361
html:p db key
OMIM 557000
db key
Orphanet 699
db key
SNOMED CT 237985009
html:p
html:p
html:p
related-gene-list
Pelizaeus-Merzbacher disease https://ghr.nlm.nih.gov/condition/pelizaeus-merzbacher-disease The prevalence of Pelizaeus-Merzbacher disease is estimated to be 1 in html:p X-linked recessive PLP1 https://ghr.nlm.nih.gov/gene/PLP1 Cockayne-Pelizaeus-Merzbacher Disease db key 2008-03 2017-12-29
200,000 to 500,000 males in the United States. This condition rarely affects PMD GTR C0205711
females. sclerosis; brain, Pelizaeus-Merzbacher db key
GeneReviews pmd
db key
MeSH D020371
db key
OMIM 312080
db key
Orphanet 702
db key
html:p SNOMED CT 64855000
html:p
html:p
related-gene-list
Pendred syndrome https://ghr.nlm.nih.gov/condition/pendred-syndrome The prevalence of Pendred syndrome is unknown. However, researchers html:p autosomal recessive SLC26A4 https://ghr.nlm.nih.gov/gene/SLC26A4 autosomal recessive sensorineural hearing impairment, enlarged vestibular db key 2016-03 2017-12-29
estimate that it accounts for 7 to 8 percent of all hearing loss that is present aqueduct, and goiter GTR C0271829
from birth (congenital hearing loss). deafness with goiter db key
goiter-deafness syndrome GeneReviews pendred
Pendred's syndrome db key
ICD-10-CM E07.1
html:p db key
MeSH D006044
db key
MeSH D006319
db key
OMIM 274600
html:p db key
Orphanet 705
db key
SNOMED CT 70348004
html:p
related-gene-list
Periventricular heterotopia https://ghr.nlm.nih.gov/condition/periventricular-heterotopia Periventricular heterotopia is a rare condition. Its incidence is unknown. html:p autosomal recessive ARFGEF2 https://ghr.nlm.nih.gov/gene/ARFGEF2 familial nodular heterotopia db key 2007-11 2017-12-29
memo related-gene gene-symbol ghr-page periventricular nodular heterotopia GTR C2678104
X-linked dominant FLNA https://ghr.nlm.nih.gov/gene/FLNA db key
related-chromosome name ghr-page GeneReviews x-pvh
5 https://ghr.nlm.nih.gov/chromosome/5 db key
MeSH D054091
db key
OMIM 300049
html:p db key
OMIM 608097
db key
OMIM 608098
db key
Orphanet 98892
html:p db key
SNOMED CT 253150002
related-gene-list
Permanent neonatal diabetes mellitus https://ghr.nlm.nih.gov/condition/permanent-neonatal-diabetes-mellitus About 1 in 400,000 infants are diagnosed with diabetes mellitus in the html:p autosomal dominant ABCC8 https://ghr.nlm.nih.gov/gene/ABCC8 PNDM db key 2011-07 2017-12-29
first few months of life. However, in about half of these babies the condition memo related-gene gene-symbol ghr-page GTR C1833104
is transient and goes away on its own by age 18 months. The remainder are autosomal recessive GCK https://ghr.nlm.nih.gov/gene/GCK db key
considered to have permanent neonatal diabetes mellitus. related-gene gene-symbol ghr-page GTR C1850096
INS https://ghr.nlm.nih.gov/gene/INS db key
related-gene gene-symbol ghr-page GeneReviews dmn
html:p KCNJ11 https://ghr.nlm.nih.gov/gene/KCNJ11 db key
related-gene gene-symbol ghr-page ICD-10-CM P70.2
PDX1 https://ghr.nlm.nih.gov/gene/PDX1 db key
MeSH D003920
html:p db key
OMIM 260370
db key
OMIM 606176
db key
html:p SNOMED CT 609565001
related-gene-list
Peroxisomal acyl-CoA oxidase deficiency https://ghr.nlm.nih.gov/condition/peroxisomal-acyl-coa-oxidase-deficiency Peroxisomal acyl-CoA oxidase deficiency is a rare disorder. Its prevalence html:p autosomal recessive ACOX1 https://ghr.nlm.nih.gov/gene/ACOX1 acyl-coenzyme A oxidase deficiency db key 2014-04 2017-12-29
is unknown. Only a few dozen cases have been described in the medical pseudo-NALD GTR C1849678
literature. pseudoadrenoleukodystrophy db key
pseudoneonatal adrenoleukodystrophy GeneReviews leukodys-ov
straight-chain acyl-CoA oxidase deficiency db key
MeSH D008052
db key
html:p MeSH D018901
db key
OMIM 264470
db key
Orphanet 2971
db key
SNOMED CT 238069004
related-gene-list
Perrault syndrome https://ghr.nlm.nih.gov/condition/perrault-syndrome Perrault syndrome is a rare disorder; fewer than 100 affected individuals html:p autosomal recessive CLPP https://ghr.nlm.nih.gov/gene/CLPP gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance db key 2014-12 2017-12-29
have been described in the medical literature. It is likely that the condition related-gene gene-symbol ghr-page gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance GTR C0685838
is underdiagnosed, because males without an affected sister will likely be HARS2 https://ghr.nlm.nih.gov/gene/HARS2 gonadal dysgenesis, XX type, with deafness db key
misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault related-gene gene-symbol ghr-page ovarian dysgenesis with sensorineural deafness GTR C3554105
syndrome. HSD17B4 https://ghr.nlm.nih.gov/gene/HSD17B4 db key
html:p related-gene gene-symbol ghr-page GTR C3809105
LARS2 https://ghr.nlm.nih.gov/gene/LARS2 db key
related-gene gene-symbol ghr-page GTR C4015307
TWNK https://ghr.nlm.nih.gov/gene/TWNK db key
GeneReviews perrault
html:p db key
MeSH D006319
db key
MeSH D023961
db key
OMIM 233400
db key
OMIM 614129
html:p db key
OMIM 614926
db key
OMIM 615300
db key
OMIM 616138
db key
Orphanet 243
db key
Orphanet 2855
db key
related-gene-list SNOMED CT 93466004
Perry syndrome https://ghr.nlm.nih.gov/condition/perry-syndrome Perry syndrome is very rare; about 50 affected individuals have been html:p autosomal dominant DCTN1 https://ghr.nlm.nih.gov/gene/DCTN1 parkinsonism with alveolar hypoventilation and mental db key 2015-09 2017-12-29
reported worldwide. GTR C1868594
db key
GeneReviews perry
db key
html:p MeSH D020734
db key
OMIM 168605
db key
Orphanet 178509
db key
SNOMED CT 699184009
html:p
html:p
related-gene-list
Persistent Müllerian duct syndrome https://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome Persistent Müllerian duct syndrome is a rare disorder; however, the html:p autosomal recessive AMH https://ghr.nlm.nih.gov/gene/AMH persistent oviduct syndrome db key 2011-03 2017-12-29
prevalence of the condition is unknown. related-gene gene-symbol ghr-page PMDS GTR C1849930
AMHR2 https://ghr.nlm.nih.gov/gene/AMHR2 db key
MeSH D058490
db key
OMIM 261550
db key
Orphanet 2856
html:p db key
SNOMED CT 702358005
html:p
html:p
related-gene-list
Peters anomaly https://ghr.nlm.nih.gov/condition/peters-anomaly The exact prevalence of Peters anomaly is unknown. This condition is one of html:p autosomal dominant CYP1B1 https://ghr.nlm.nih.gov/gene/CYP1B1 irido-corneo-trabecular dysgenesis db key 2014-01 2017-12-29
a group of disorders known as congenital corneal opacities, which affect 3 to 6 memo related-gene gene-symbol ghr-page Peters congenital glaucoma GTR C0344559
individuals per 100,000. autosomal recessive FOXC1 https://ghr.nlm.nih.gov/gene/FOXC1 db key
related-gene gene-symbol ghr-page ICD-10-CM Q13.4
PAX6 https://ghr.nlm.nih.gov/gene/PAX6 db key
related-gene gene-symbol ghr-page MeSH D003318
PITX2 https://ghr.nlm.nih.gov/gene/PITX2 db key
OMIM 604229
db key
Orphanet 708
db key
SNOMED CT 204153003
html:p
html:p
related-gene-list
Peters plus syndrome https://ghr.nlm.nih.gov/condition/peters-plus-syndrome Peters plus syndrome is a rare disorder; its incidence is unknown. Fewer html:p autosomal recessive B3GLCT https://ghr.nlm.nih.gov/gene/B3GLCT Krause-Kivlin syndrome db key 2013-09 2017-12-29
than 80 people with this condition have been reported worldwide. Krause-van Schooneveld-Kivlin syndrome GTR C0796012
Peters anomaly-short limb dwarfism syndrome db key
Peters'-plus syndrome GeneReviews peters-plus
html:p Peters' plus syndrome db key
MeSH D015785
db key
OMIM 261540
db key
Orphanet 709
db key
SNOMED CT 449817000
html:p
html:p
html:p
html:p
related-gene-list
Peutz-Jeghers syndrome https://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome The prevalence of this condition is uncertain; estimates range from 1 in html:p autosomal dominant STK11 https://ghr.nlm.nih.gov/gene/STK11 intestinal polyposis-cutaneous pigmentation syndrome db key 2013-02 2017-12-29
25,000 to 300,000 individuals. lentiginosis, perioral GTR C0031269
periorificial lentiginosis syndrome db key
Peutz-Jeghers polyposis GeneReviews pjs
html:p PJS db key
polyposis, hamartomatous intestinal ICD-10-CM Q85.8
polyposis, intestinal, II db key
polyps-and-spots syndrome MeSH D010580
db key
OMIM 175200
db key
html:p Orphanet 2869
db key
SNOMED CT 54411001
related-gene-list
Pfeiffer syndrome https://ghr.nlm.nih.gov/condition/pfeiffer-syndrome Pfeiffer syndrome affects about 1 in 100,000 individuals. html:p autosomal dominant FGFR1 https://ghr.nlm.nih.gov/gene/FGFR1 acrocephalosyndactyly, type V db key 2017-01 2017-12-29
related-gene gene-symbol ghr-page ACS V GTR C1863356
FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 ACS5 db key
craniofacial-skeletal-dermatologic dysplasia GeneReviews craniosynostosis
html:p Noack syndrome db key
MeSH D000168
db key
OMIM 101600
db key
html:p Orphanet 710
db key
SNOMED CT 70410008
html:p
related-gene-list
Phenylketonuria https://ghr.nlm.nih.gov/condition/phenylketonuria The occurrence of PKU varies among ethnic groups and geographic regions html:p autosomal recessive PAH https://ghr.nlm.nih.gov/gene/PAH deficiency disease, phenylalanine hydroxylase db key 2017-10 2017-12-29
worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. Folling disease GTR C0031485
Most cases of PKU are detected shortly after birth by newborn screening, and Folling's disease db key
treatment is started promptly. As a result, the severe signs and symptoms of PAH deficiency GeneReviews pku
classic PKU are rarely seen. Phenylalanine Hydroxylase Deficiency db key
phenylalanine hydroxylase deficiency ICD-10-CM E70.0
html:p phenylalanine hydroxylase deficiency disease db key
PKU MeSH D010661
db key
OMIM 261600
db key
Orphanet 716
db key
SNOMED CT 297225000
db key
html:p SNOMED CT 60590005
db key
SNOMED CT 7573000
html:p
related-gene-list
Phosphoglycerate dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/phosphoglycerate-dehydrogenase-deficiency This condition is likely a rare disorder, but its prevalence is unknown. At html:p autosomal recessive PHGDH https://ghr.nlm.nih.gov/gene/PHGDH 3-PGDH deficiency db key 2014-05 2017-12-29
least 15 cases have been described in the scientific literature. 3-phosphoglycerate dehydrogenase deficiency GTR C1866174
PHGDH deficiency db key
MeSH D000592
db key
OMIM 601815
db key
Orphanet 79351
html:p db key
SNOMED CT 303098002
html:p
html:p
related-gene-list
Phosphoglycerate kinase deficiency https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 html:p X-linked recessive PGK1 https://ghr.nlm.nih.gov/gene/PGK1 PGK deficiency db key 2011-12 2017-12-29
families with affected members have been reported in the scientific literature. PGK1 deficiency GTR C0684324
phosphoglycerate kinase 1 deficiency db key
GTR C1970848
db key
MeSH D008661
db key
OMIM 300653
db key
Orphanet 713
html:p db key
SNOMED CT 124335006
html:p
related-gene-list
Phosphoglycerate mutase deficiency https://ghr.nlm.nih.gov/condition/phosphoglycerate-mutase-deficiency Phosphoglycerate mutase deficiency is a rare condition; about 15 affected html:p autosomal recessive PGAM2 https://ghr.nlm.nih.gov/gene/PGAM2 deficiency mutase phosphoglycerate db key 2011-12 2017-12-29
people have been reported in the medical literature. Most affected individuals glycogen storage disease X GTR C0268149
have been African American. GSD X db key
GSD10 MeSH D008661
GSDX db key
myopathy due to phosphoglycerate mutase deficiency OMIM 261670
PGAM deficiency db key
html:p PGAMM deficiency Orphanet 97234
db key
SNOMED CT 124675005
db key
related-gene-list SNOMED CT 37666005
Phosphoribosylpyrophosphate synthetase superactivity https://ghr.nlm.nih.gov/condition/phosphoribosylpyrophosphate-synthetase-superac PRS superactivity is believed to be a rare disorder. Approximately 30 html:p X-linked dominant PRPS1 https://ghr.nlm.nih.gov/gene/PRPS1 gout, PRPS-related db key 2009-09 2017-12-29
tivity families with the condition have been reported. More than two thirds of these PRPP synthetase overactivity GTR C1970827
families are affected by the milder form of the disease. PRPP synthetase superactivity db key
PRPS1 superactivity GeneReviews prs
PRS overactivity db key
PRS superactivity MeSH D033461
db key
html:p OMIM 300661
db key
Orphanet 3222
db key
SNOMED CT 239847002
related-gene-list
Piebaldism https://ghr.nlm.nih.gov/condition/piebaldism The prevalence of piebaldism is unknown. html:p autosomal dominant KIT https://ghr.nlm.nih.gov/gene/KIT PBT db key 2013-02 2017-12-29
related-gene gene-symbol ghr-page piebald trait GTR C0080024
SNAI2 https://ghr.nlm.nih.gov/gene/SNAI2 db key
MeSH D016116
db key
OMIM 172800
db key
html:p Orphanet 2884
db key
SNOMED CT 718122005
html:p
related-gene-list
Pilomatricoma https://ghr.nlm.nih.gov/condition/pilomatricoma Pilomatricoma is an uncommon tumor. The exact prevalence is unknown, but html:p pattern unknown CTNNB1 https://ghr.nlm.nih.gov/gene/CTNNB1 benign pilomatricoma db key 2012-06 2017-12-29
pilomatricoma probably accounts for less than 1 percent of all benign skin benign pilomatrixoma GTR C0206711
tumors. calcifying epithelioma of Malherbe db key
Malherbe calcifying epithelioma MeSH D018296
pilomatrixoma db key
OMIM 132600
db key
Orphanet 91414
db key
html:p SNOMED CT 274901004
db key
SNOMED CT 44155009
html:p
related-gene-list
Pitt-Hopkins syndrome https://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately html:p autosomal dominant TCF4 https://ghr.nlm.nih.gov/gene/TCF4 PHS db key 2015-02 2017-12-29
500 affected individuals have been reported worldwide. PTHS GTR C1970431
db key
html:p GeneReviews pitt-hopkins
db key
MeSH D008607
db key
OMIM 610954
db key
SNOMED CT 702344008
html:p
html:p
html:p
html:p
html:p
related-gene-list
Platyspondylic lethal skeletal dysplasia, Torrance type https://ghr.nlm.nih.gov/condition/platyspondylic-lethal-skeletal-dysplasia-torra This condition is very rare; only a few affected individuals have been html:p autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 platyspondylic chondrodysplasia, Torrance-Luton type db key 2008-07 2017-12-29
nce-type reported worldwide. platyspondylic skeletal dysplasia, Torrance type GTR C1835437
PLSD-T db key
PLSD-TL MeSH D003095
db key
MeSH D010009
db key
html:p OMIM 151210
db key
Orphanet 1417
db key
SNOMED CT 254047006
inheritance-pattern-list
PMM2-congenital disorder of glycosylation https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation More than 800 individuals with PMM2-CDG have been identified worldwide. html:p ar autosomal recessive gene-symbol synonym carbohydrate-deficient glycoprotein syndrome type Ia db-key db key 2010-07 2017-12-29
PMM2 synonym CDG Ia GTR C0349653
-CDG vary widely among affected individuals, sometimes even among members of the synonym CDG1a db-key db key
same family. synonym CDGS1a GeneReviews cdg-1a
html:p synonym congenital disorder of glycosylation type Ia db-key db key
synonym Jaeken syndrome MeSH D018981
synonym phosphomannomutase 2 deficiency db-key db key
synonym PMM deficiency OMIM 212065
synonym PMM2-CDG db-key db key
SNOMED CT 459063003
-CDG may also have elevated liver function test results, , fluid around
the heart (pericardial effusion), and blood clotting disorders. About 20 percent
of affected infants do not survive the first year of life due to multiple organ
failure.
html:p
html:p
html:p
-CDG do not go through puberty. Affected males experience normal puberty but
often have small testes.
related-gene-list
Pol III-related leukodystrophy https://ghr.nlm.nih.gov/condition/pol-iii-related-leukodystrophy Pol III-related leukodystrophy is a rare disorder; its prevalence is html:p autosomal recessive POLR3A https://ghr.nlm.nih.gov/gene/POLR3A 4H syndrome db key 2017-06 2017-12-29
unknown. More than 100 affected individuals have been described in the medical related-gene gene-symbol ghr-page ADDH GTR CN168056
literature. POLR3B https://ghr.nlm.nih.gov/gene/POLR3B ataxia, delayed dentition, and hypomyelination db key
dentoleukoencephalopathy GeneReviews pol3-leuk
HCAHC db key
html:p HLD7 MeSH D020279
HLD8 db key
hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum OMIM 607694
hypomyelination, hypodontia, hypogonadotropic hypogonadism db key
leukodystrophy with oligodontia OMIM 614381
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or db key
hypogonadotropic hypogonadism Orphanet 137639
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or db key
hypogonadotropic hypogonadism Orphanet 77295
html:p leukoencephalopathy-ataxia-hypodontia-hypomyelination db key
LO Orphanet 88637
odontoleukodystrophy db key
Pol III disorder SNOMED CT 712637001
html:p Pol III-related hypomyelinating leukodystrophies db key
ribonucleic acid polymerase III-related leukodystrophy SNOMED CT 721846006
TACH db key
-ataxia with central hypomyelination SNOMED CT 722064003
html:p
html:p
html:p
html:p
synonym-list db-key-list
Poland syndrome https://ghr.nlm.nih.gov/condition/poland-syndrome Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For html:p pattern unknown synonym Poland sequence key 2017-12-29
unknown reasons, this disorder occurs more than twice as often in males than in synonym Poland syndactyly db-key C0032357
females. Poland syndrome may be underdiagnosed because mild cases without hand synonym Poland's anomaly key
involvement may never come to medical attention. synonym Poland's syndrome db-key D011045
html:p synonym unilateral defect of pectoralis major and syndactyly of the hand key
db-key 173800
key
db-key 2911
key
38371006
html:p
html:p
html:p
related-gene-list
Polycystic kidney disease https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease Polycystic kidney disease is a fairly common genetic disorder. It affects html:p autosomal dominant PKD1 https://ghr.nlm.nih.gov/gene/PKD1 PKD db key 2014-05 2017-12-29
about 500,000 people in the United States. The autosomal dominant form of the memo related-gene gene-symbol ghr-page polycystic renal disease GTR C0085413
disease is much more common than the autosomal recessive form. Autosomal autosomal recessive PKD2 https://ghr.nlm.nih.gov/gene/PKD2 db key
dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the related-gene gene-symbol ghr-page GTR C0085548
autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people. PKHD1 https://ghr.nlm.nih.gov/gene/PKHD1 db key
html:p GTR C1418603
db key
GTR C2751306
db key
GTR CN119611
db key
GeneReviews pkd-ad
html:p db key
GeneReviews pkd-ar
db key
ICD-10-CM Q61.1
db key
ICD-10-CM Q61.2
db key
ICD-10-CM Q61.3
db key
ICD-10-CM Q61.11
db key
ICD-10-CM Q61.19
db key
ICD-10-CM Z82.71
db key
MeSH D007690
db key
OMIM 173900
db key
OMIM 263200
db key
OMIM 600666
db key
OMIM 613095
db key
Orphanet 730
db key
Orphanet 731
db key
SNOMED CT 28728008
db key
related-gene-list SNOMED CT 28770003
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with- PLOSL is a very rare condition. It was first reported in the Finnish html:p autosomal recessive TREM2 https://ghr.nlm.nih.gov/gene/TREM2 Nasu-Hakola disease db key 2008-11 2017-12-29
sclerosing-leukoencephalopathy population, where it has an estimated prevalence of 1 to 2 per million people. related-gene gene-symbol ghr-page NHD GTR C1857316
This condition has also been diagnosed in more than 100 people in the Japanese TYROBP https://ghr.nlm.nih.gov/gene/TYROBP PLO-SL db key
population. Although affected individuals have been reported worldwide, PLOSL PLOSL GeneReviews plosl
appears to be less common in other countries. Presenile dementia with bone cysts db key
html:p MeSH D019636
db key
OMIM 221770
db key
Orphanet 2770
db key
SNOMED CT 702347001
html:p
related-gene-list
Polycythemia vera https://ghr.nlm.nih.gov/condition/polycythemia-vera The prevalence of polycythemia vera varies worldwide. The condition affects html:p autosomal dominant JAK2 https://ghr.nlm.nih.gov/gene/JAK2 Osler-Vaquez disease db key 2013-07 2017-12-29
an estimated 44 to 57 per 100,000 individuals in the United States. For unknown memo related-gene gene-symbol ghr-page polycythemia ruba vera GTR C0032463
reasons, men develop polycythemia vera more frequently than women. not inherited TET2 https://ghr.nlm.nih.gov/gene/TET2 primary polycythemia db key
PRV ICD-10-CM D45
PV db key
MeSH D011087
db key
OMIM 263300
db key
Orphanet 729
db key
html:p SNOMED CT 109992005
db key
SNOMED CT 127066000
db key
SNOMED CT 128841001
db key
SNOMED CT 414127000
related-gene-list
Polymicrogyria https://ghr.nlm.nih.gov/condition/polymicrogyria The prevalence of isolated polymicrogyria is unknown. Researchers believe html:p autosomal dominant ADGRG1 https://ghr.nlm.nih.gov/gene/ADGRG1 PMG db key 2009-06 2017-12-29
that it may be relatively common overall, although the individual forms of the memo GTR C1845668
disorder (such as bilateral generalized polymicrogyria) are probably rare. autosomal recessive db key
memo GTR C1847352
X-linked dominant db key
html:p memo GTR C2675191
X-linked recessive db key
GTR C2750247
db key
GeneReviews poly
html:p db key
MeSH D065706
db key
OMIM 300388
db key
OMIM 606854
html:p db key
OMIM 610031
db key
OMIM 612691
db key
Orphanet 35981
db key
html:p SNOMED CT 438583008
db key
SNOMED CT 4945003
db key
SNOMED CT 715905006
db key
related-gene-list SNOMED CT 722036008
Pompe disease https://ghr.nlm.nih.gov/condition/pompe-disease Pompe disease affects about 1 in 40,000 people in the United States. The html:p autosomal recessive GAA https://ghr.nlm.nih.gov/gene/GAA acid maltase deficiency db key 2016-02 2017-12-29
incidence of this disorder varies among different ethnic groups. acid maltase deficiency disease GTR C0017921
alpha-1,4-glucosidase deficiency db key
AMD GTR C0751173
html:p deficiency of alpha-glucosidase db key
GAA deficiency GeneReviews gsd2
glycogen storage disease type II db key
html:p glycogenosis Type II ICD-10-CM E74.02
GSD II db key
GSD2 MeSH D006009
Pompe's disease db key
OMIM 232300
db key
Orphanet 365
html:p db key
SNOMED CT 124462004
db key
SNOMED CT 274864009
html:p
related-gene-list
Pontocerebellar hypoplasia https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia The prevalence of pontocerebellar hypoplasia is unknown, although most html:p autosomal recessive AMPD2 https://ghr.nlm.nih.gov/gene/AMPD2 congenital pontocerebellar hypoplasia db key 2014-11 2017-12-29
forms of the disorder appear to be very rare. related-gene gene-symbol ghr-page OPCH GTR C1261175
CHMP1A https://ghr.nlm.nih.gov/gene/CHMP1A PCH db key
related-gene gene-symbol ghr-page GTR C1842687
CLP1 https://ghr.nlm.nih.gov/gene/CLP1 db key
related-gene gene-symbol ghr-page GTR C1843504
EXOSC3 https://ghr.nlm.nih.gov/gene/EXOSC3 db key
related-gene gene-symbol ghr-page GTR C1848526
html:p RARS2 https://ghr.nlm.nih.gov/gene/RARS2 db key
related-gene gene-symbol ghr-page GTR C1856974
SEPSECS https://ghr.nlm.nih.gov/gene/SEPSECS db key
related-gene gene-symbol ghr-page GTR C1857762
html:p TSEN2 https://ghr.nlm.nih.gov/gene/TSEN2 db key
related-gene gene-symbol ghr-page GTR C1969084
TSEN34 https://ghr.nlm.nih.gov/gene/TSEN34 db key
related-gene gene-symbol ghr-page GTR C2676465
TSEN54 https://ghr.nlm.nih.gov/gene/TSEN54 db key
related-gene gene-symbol ghr-page GTR C2676466
VRK1 https://ghr.nlm.nih.gov/gene/VRK1 db key
html:p GTR C2932714
db key
GTR C3151140
db key
GTR C3553449
db key
GTR C3554209
db key
html:p GTR C3554226
db key
GTR C4014347
db key
GTR C4014488
db key
html:p GTR C4015160
db key
GeneReviews exosc3-pc-hypo-p
db key
GeneReviews pc-hypo-p
db key
MeSH D002526
db key
OMIM 225753
db key
OMIM 277470
db key
OMIM 607596
db key
OMIM 608027
db key
OMIM 610204
db key
OMIM 611523
db key
OMIM 612389
db key
OMIM 612390
db key
OMIM 613811
db key
OMIM 614678
db key
OMIM 614961
db key
OMIM 614969
db key
OMIM 615803
db key
OMIM 615809
db key
OMIM 615851
db key
Orphanet 2254
db key
Orphanet 2524
db key
Orphanet 166063
db key
Orphanet 166068
db key
Orphanet 166073
db key
Orphanet 284339
db key
Orphanet 324569
db key
Orphanet 97249
db key
Orphanet 98523
db key
SNOMED CT 373666002
db key
related-gene-list SNOMED CT 45163000
Popliteal pterygium syndrome https://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome Popliteal pterygium syndrome is a rare condition, occurring in html:p autosomal dominant IRF6 https://ghr.nlm.nih.gov/gene/IRF6 Facio-genito-popliteal syndrome db key 2008-04 2017-12-29
approximately 1 in 300,000 individuals. PPS GTR C0265259
db key
GeneReviews vws
db key
MeSH D000015
db key
html:p OMIM 119500
db key
SNOMED CT 66783006
html:p
related-gene-list
Porphyria https://ghr.nlm.nih.gov/condition/porphyria The exact prevalence of porphyria is unknown, but it probably ranges from 1 html:p autosomal dominant ALAD https://ghr.nlm.nih.gov/gene/ALAD Hematoporphyria db key 2009-07 2017-12-29
in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the memo related-gene gene-symbol ghr-page porphyrin disorder GTR C0032708
most common type of porphyria. For some forms of porphyria, the prevalence is autosomal recessive ALAS2 https://ghr.nlm.nih.gov/gene/ALAS2 db key
unknown because many people with a genetic mutation associated with the disease memo related-gene gene-symbol ghr-page GTR C0162530
never experience signs or symptoms.Acute intermittent porphyria is the most X-linked dominant CPOX https://ghr.nlm.nih.gov/gene/CPOX db key
common form of acute porphyria in most countries. It may occur more frequently html:p related-gene gene-symbol ghr-page GTR C0162531
in northern European countries, such as Sweden, and in the United Kingdom. FECH https://ghr.nlm.nih.gov/gene/FECH db key
Another form of the disorder, hereditary coproporphyria, has been reported related-gene gene-symbol ghr-page GTR C0162532
mostly in Europe and North America. Variegate porphyria is most common in the HFE https://ghr.nlm.nih.gov/gene/HFE db key
Afrikaner population of South Africa; about 3 in 1,000 people in this population related-gene gene-symbol ghr-page GTR C0162565
have the genetic change that causes this form of the disorder. HMBS https://ghr.nlm.nih.gov/gene/HMBS db key
related-gene gene-symbol ghr-page GTR C0162568
html:p PPOX https://ghr.nlm.nih.gov/gene/PPOX db key
related-gene gene-symbol ghr-page GTR C0268323
UROD https://ghr.nlm.nih.gov/gene/UROD db key
related-gene gene-symbol ghr-page GTR C2677889
UROS https://ghr.nlm.nih.gov/gene/UROS db key
GeneReviews aip
db key
GeneReviews cep
db key
GeneReviews epp-ar
db key
html:p GeneReviews epp-xl
db key
GeneReviews hcp
db key
GeneReviews porphyria-ct
db key
GeneReviews porphyria-var
db key
ICD-10-CM E80.0
db key
html:p ICD-10-CM E80.1
db key
ICD-10-CM E80.2
db key
ICD-10-CM E80.20
db key
ICD-10-CM E80.21
db key
ICD-10-CM E80.29
db key
MeSH D011164
db key
OMIM 121300
db key
OMIM 125270
db key
OMIM 176000
db key
OMIM 176100
db key
OMIM 176200
db key
OMIM 177000
db key
OMIM 263700
db key
OMIM 300752
db key
Orphanet 738
db key
SNOMED CT 22935002
db key
SNOMED CT 234422006
db key
SNOMED CT 238056003
db key
SNOMED CT 276262000
db key
SNOMED CT 276263005
db key
SNOMED CT 276265003
db key
SNOMED CT 418470004
db key
SNOMED CT 44574006
db key
SNOMED CT 51022005
db key
SNOMED CT 58275005
db key
SNOMED CT 7425008
db key
related-gene-list SNOMED CT 84816006
Potassium-aggravated myotonia https://ghr.nlm.nih.gov/condition/potassium-aggravated-myotonia This condition appears to be rare; it has been reported in only a few html:p autosomal dominant SCN4A https://ghr.nlm.nih.gov/gene/SCN4A PAM db key 2007-04 2017-12-29
individuals and families worldwide. sodium channel myotonia GTR C0752355
db key
MeSH D020967
db key
OMIM 608390
db key
Orphanet 612
db key
SNOMED CT 702355008
related-gene-list
Potocki-Lupski syndrome https://ghr.nlm.nih.gov/condition/potocki-lupski-syndrome Potocki-Lupski syndrome affects an estimated 1 in 25,000 people worldwide. html:p autosomal dominant RAI1 https://ghr.nlm.nih.gov/gene/RAI1 17p11.2 duplication syndrome db key 2017-10 2017-12-29
More than 50 affected individuals have been described in the medical literature. related-chromosome name ghr-page 17p11.2 microduplication syndrome GTR C1970482
17 https://ghr.nlm.nih.gov/chromosome/17 chromosome 17p11.2 duplication syndrome db key
dup(17)(p11.2p11.2) GeneReviews potocki-lupski
html:p duplication 17p11.2 syndrome db key
PLS MeSH D002658
PTLS db key
MeSH D008607
db key
MeSH D058674
html:p db key
OMIM 610883
db key
Orphanet 1713
html:p
related-gene-list
Potocki-Shaffer syndrome https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome Potocki-Shaffer syndrome is a rare condition, although its prevalence is html:p autosomal dominant ALX4 https://ghr.nlm.nih.gov/gene/ALX4 chromosome 11p11.2 deletion syndrome db key 2016-05 2017-12-29
unknown. Fewer than 100 cases have been reported in the scientific literature. related-gene gene-symbol ghr-page P11pDS GTR C1832588
EXT2 https://ghr.nlm.nih.gov/gene/EXT2 proximal 11p deletion syndrome db key
related-gene gene-symbol ghr-page MeSH D025063
PHF21A https://ghr.nlm.nih.gov/gene/PHF21A db key
related-chromosome name ghr-page OMIM 601224
11 https://ghr.nlm.nih.gov/chromosome/11 db key
Orphanet 52022
db key
html:p Orphanet 60015
db key
SNOMED CT 702346005
related-gene-list
PPM-X syndrome https://ghr.nlm.nih.gov/condition/ppm-x-syndrome The prevalence of PPM-X syndrome is unknown. html:p X-linked dominant MECP2 https://ghr.nlm.nih.gov/gene/MECP2 PPMX db key 2011-10 2017-12-29
GTR C0035372
db key
GeneReviews rett
db key
MeSH D038901
db key
OMIM 300055
db key
Orphanet 3077
db key
inheritance-pattern-list related-gene-list SNOMED CT 702356009
PPP2R5D-related disability https://ghr.nlm.nih.gov/condition/ppp2r5d-related--disability PPP2R5D-related disability is a rare disorder. At least 20 html:p ad autosomal dominant ghr-page autosomal dominant mental retardation 35 db-key db key 2017-08 2017-12-29
individuals with this condition have been described in the medical literature. https://ghr.nlm.nih.gov/gene/PPP2R5D GTR C4225354
db-key db key
MeSH D008607
db-key db key
OMIM 616355
related-gene-list
Prader-Willi syndrome https://ghr.nlm.nih.gov/condition/prader-willi-syndrome Prader-Willi syndrome affects an estimated 1 in 10,000 to 30,000 people html:p not inherited OCA2 https://ghr.nlm.nih.gov/gene/OCA2 Prader-Labhart-Willi syndrome db key 2014-06 2017-12-29
worldwide. related-chromosome name ghr-page PWS GTR C0032897
15 https://ghr.nlm.nih.gov/chromosome/15 Willi-Prader syndrome db key
GeneReviews pws
db key
MeSH D011218
db key
html:p OMIM 176270
db key
Orphanet 739
db key
SNOMED CT 89392001
synonym-list db-key-list
Preeclampsia https://ghr.nlm.nih.gov/condition/preeclampsia Preeclampsia is a common condition in all populations, occurring in 5 to 8 html:p not inherited synonym pre-eclampsia key 2017-12-29
percent of pregnancies. It occurs more frequently in women of African or memo synonym pregnancy-induced hypertension db-key C0032914
Hispanic descent than it does in women of European descent. pattern unknown synonym toxemia of pregnancy key
db-key C1836255
html:p key
db-key C1836256
key
db-key C1836257
key
db-key C3281288
key
db-key O11
key
html:p db-key O11.1
key
db-key O11.2
key
db-key O11.3
key
db-key O11.9
key
db-key O14.0
html:p key
db-key O14.00
key
db-key O14.1
key
html:p db-key O14.02
key
db-key O14.2
key
html:p db-key O14.03
key
db-key O14.9
key
db-key O14.10
key
db-key O14.12
key
db-key O14.13
key
db-key O14.20
key
db-key O14.22
key
db-key O14.23
key
db-key O14.90
key
db-key O14.92
key
db-key O14.93
key
db-key D011225
key
db-key 189800
key
db-key 609402
key
db-key 609403
key
db-key 609404
key
db-key 614595
key
db-key 275555
key
related-gene-list 48194001
Prekallikrein deficiency https://ghr.nlm.nih.gov/condition/prekallikrein-deficiency The prevalence of prekallikrein deficiency is unknown. Approximately 80 html:p autosomal recessive KLKB1 https://ghr.nlm.nih.gov/gene/KLKB1 congenital prekallikrein deficiency db key 2014-07 2017-12-29
affected individuals in about 30 families have been described in the medical Fletcher factor deficiency GTR C0272339
literature. Because prekallikrein deficiency usually does not cause any Fletcher trait db key
symptoms, researchers suspect that most people with the condition are never PKK deficiency MeSH D001778
diagnosed. db key
OMIM 612423
html:p db key
Orphanet 749
db key
SNOMED CT 48976006
related-gene-list
PRICKLE1-related progressive myoclonus with ataxia https://ghr.nlm.nih.gov/condition/prickle1-related-progressive-myoclonus-epileps The prevalence of PRICKLE1-related progressive myoclonus with html:p ad autosomal dominant PRICKLE1 synonym db-key db key 2011-12 2017-12-29
y-with-ataxia ataxia is unknown. The condition has been reported in three large families from code memo synonym GTR C2676254
Jordan and northern Israel and in at least two unrelated individuals. ar autosomal recessive synonym db-key db key
synonym GeneReviews me-ataxia
html:p synonym db-key db key
MeSH D020191
db-key db key
OMIM 612437
db-key db key
SNOMED CT 702326000
html:p
html:p
related-gene-list
Primary carnitine deficiency https://ghr.nlm.nih.gov/condition/primary-carnitine-deficiency The incidence of primary carnitine deficiency in the general population is html:p autosomal recessive SLC22A5 https://ghr.nlm.nih.gov/gene/SLC22A5 carnitine transporter deficiency db key 2014-09 2017-12-29
approximately 1 in 100,000 newborns. In Japan, this disorder affects 1 in every carnitine uptake defect GTR C0342788
40,000 newborns. carnitine uptake deficiency db key
CUD GeneReviews cdsp
html:p renal carnitine transport defect db key
systemic carnitine deficiency ICD-10-CM E71.41
db key
MeSH D008052
db key
OMIM 212140
db key
Orphanet 158
html:p db key
SNOMED CT 21764004
related-gene-list
Primary ciliary dyskinesia https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals. html:p autosomal recessive ARMC4 https://ghr.nlm.nih.gov/gene/ARMC4 immotile cilia syndrome db key 2014-04 2017-12-29
related-gene gene-symbol ghr-page PCD GTR C0008780
C21orf59 https://ghr.nlm.nih.gov/gene/C21orf59 db key
related-gene gene-symbol ghr-page GTR C0022521
CCDC39 https://ghr.nlm.nih.gov/gene/CCDC39 db key
related-gene gene-symbol ghr-page GTR C1837615
CCDC40 https://ghr.nlm.nih.gov/gene/CCDC40 db key
html:p related-gene gene-symbol ghr-page GTR C1837616
CCDC65 https://ghr.nlm.nih.gov/gene/CCDC65 db key
related-gene gene-symbol ghr-page GTR C1837618
CCDC103 https://ghr.nlm.nih.gov/gene/CCDC103 db key
related-gene gene-symbol ghr-page GTR C1847554
CCDC114 https://ghr.nlm.nih.gov/gene/CCDC114 db key
related-gene gene-symbol ghr-page GTR C1970506
DNAAF1 https://ghr.nlm.nih.gov/gene/DNAAF1 db key
related-gene gene-symbol ghr-page GTR C2675228
DNAAF2 https://ghr.nlm.nih.gov/gene/DNAAF2 db key
related-gene gene-symbol ghr-page GTR C2675229
DNAAF3 https://ghr.nlm.nih.gov/gene/DNAAF3 db key
html:p related-gene gene-symbol ghr-page GTR C2675867
DNAAF4 https://ghr.nlm.nih.gov/gene/DNAAF4 db key
related-gene gene-symbol ghr-page GTR C2676235
DNAAF5 https://ghr.nlm.nih.gov/gene/DNAAF5 db key
related-gene gene-symbol ghr-page GTR C2677085
DNAH5 https://ghr.nlm.nih.gov/gene/DNAH5 db key
related-gene gene-symbol ghr-page GTR C2678473
DNAH8 https://ghr.nlm.nih.gov/gene/DNAH8 db key
related-gene gene-symbol ghr-page GTR C2750790
html:p DNAH11 https://ghr.nlm.nih.gov/gene/DNAH11 db key
related-gene gene-symbol ghr-page GTR C3151136
DNAI1 https://ghr.nlm.nih.gov/gene/DNAI1 db key
related-gene gene-symbol ghr-page GTR C3151137
DNAI2 https://ghr.nlm.nih.gov/gene/DNAI2 db key
related-gene gene-symbol ghr-page GTR C3151460
DNAL1 https://ghr.nlm.nih.gov/gene/DNAL1 db key
related-gene gene-symbol ghr-page GTR C3542550
html:p DRC1 https://ghr.nlm.nih.gov/gene/DRC1 db key
related-gene gene-symbol ghr-page GeneReviews pcd
HYDIN https://ghr.nlm.nih.gov/gene/HYDIN db key
related-gene gene-symbol ghr-page MeSH D002925
LRRC6 https://ghr.nlm.nih.gov/gene/LRRC6 db key
html:p related-gene gene-symbol ghr-page OMIM 244400
NME8 https://ghr.nlm.nih.gov/gene/NME8 db key
related-gene gene-symbol ghr-page OMIM 606763
OFD1 https://ghr.nlm.nih.gov/gene/OFD1 db key
html:p related-gene gene-symbol ghr-page OMIM 608644
RPGR https://ghr.nlm.nih.gov/gene/RPGR db key
related-gene gene-symbol ghr-page OMIM 608646
RSPH1 https://ghr.nlm.nih.gov/gene/RSPH1 db key
related-gene gene-symbol ghr-page OMIM 608647
RSPH4A https://ghr.nlm.nih.gov/gene/RSPH4A db key
related-gene gene-symbol ghr-page OMIM 610852
RSPH9 https://ghr.nlm.nih.gov/gene/RSPH9 db key
related-gene gene-symbol ghr-page OMIM 611884
SPAG1 https://ghr.nlm.nih.gov/gene/SPAG1 db key
related-gene gene-symbol ghr-page OMIM 612274
ZMYND10 https://ghr.nlm.nih.gov/gene/ZMYND10 db key
OMIM 612444
db key
OMIM 612518
db key
OMIM 612649
db key
OMIM 612650
db key
OMIM 613193
db key
OMIM 613807
db key
OMIM 613808
db key
Orphanet 244
db key
SNOMED CT 42402006
db key
related-gene-list SNOMED CT 86204009
Primary coenzyme Q10 deficiency https://ghr.nlm.nih.gov/condition/primary-coenzyme-q10-deficiency The prevalence of primary coenzyme Q10 deficiency is thought to be less html:p autosomal recessive COQ2 https://ghr.nlm.nih.gov/gene/COQ2 coenzyme Q deficiency db key 2017-04 2017-12-29
than 1 in 100,000 people. related-gene gene-symbol ghr-page CoQ deficiency GeneReviews coq10-def
COQ4 https://ghr.nlm.nih.gov/gene/COQ4 primary CoQ10 deficiency db key
html:p related-gene gene-symbol ghr-page ubiquinone deficiency MeSH D017237
COQ6 https://ghr.nlm.nih.gov/gene/COQ6 db key
related-gene gene-symbol ghr-page OMIM 607426
COQ7 https://ghr.nlm.nih.gov/gene/COQ7 db key
related-gene gene-symbol ghr-page OMIM 612016
COQ8A https://ghr.nlm.nih.gov/gene/COQ8A db key
related-gene gene-symbol ghr-page OMIM 614650
COQ8B https://ghr.nlm.nih.gov/gene/COQ8B db key
related-gene gene-symbol ghr-page OMIM 614651
COQ9 https://ghr.nlm.nih.gov/gene/COQ9 db key
related-gene gene-symbol ghr-page OMIM 614652
PDSS1 https://ghr.nlm.nih.gov/gene/PDSS1 db key
related-gene gene-symbol ghr-page OMIM 614654
PDSS2 https://ghr.nlm.nih.gov/gene/PDSS2 db key
OMIM 615573
db key
html:p OMIM 616276
db key
OMIM 616276
db key
OMIM 616733
db key
Orphanet 139485
html:p
related-gene-list
Primary hyperoxaluria https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals html:p autosomal recessive AGXT https://ghr.nlm.nih.gov/gene/AGXT congenital oxaluria db key 2015-12 2017-12-29
worldwide. Type 1 is the most common form, accounting for approximately 80 related-gene gene-symbol ghr-page D-glycerate dehydrogenase deficiency GTR C0020500
percent of cases. Types 2 and 3 each account for about 10 percent of cases. GRHPR https://ghr.nlm.nih.gov/gene/GRHPR glyceric aciduria db key
related-gene gene-symbol ghr-page glycolic aciduria GTR C0020501
html:p HOGA1 https://ghr.nlm.nih.gov/gene/HOGA1 hepatic AGT deficiency db key
hyperoxaluria, primary GTR C0268164
oxalosis db key
oxaluria, primary GTR C0268165
peroxisomal alanine:glyoxylate aminotransferase deficiency db key
primary oxalosis GTR C3150878
primary oxaluria db key
GeneReviews ph1
db key
GeneReviews ph2
db key
GeneReviews ph3
html:p db key
ICD-10-CM E72.53
db key
MeSH D006960
db key
OMIM 259900
db key
OMIM 260000
db key
OMIM 613616
db key
Orphanet 93598
db key
Orphanet 93599
db key
Orphanet 93600
db key
SNOMED CT 17901006
db key
SNOMED CT 373607009
db key
SNOMED CT 40951006
db key
related-gene-list SNOMED CT 65520001
Primary localized cutaneous amyloidosis https://ghr.nlm.nih.gov/condition/primary-localized-cutaneous-amyloidosis PLCA occurs worldwide, most commonly in Southeast Asia and South America. html:p autosomal dominant IL31RA https://ghr.nlm.nih.gov/gene/IL31RA amyloidosis IX db key 2017-03 2017-12-29
The prevalence of the condition is unknown. memo related-gene gene-symbol ghr-page PLCA GTR C0268398
autosomal recessive OSMR https://ghr.nlm.nih.gov/gene/OSMR primary cutaneous amyloidosis db key
memo GTR C3151404
not inherited db key
MeSH D000686
db key
html:p OMIM 105250
db key
OMIM 613955
db key
html:p Orphanet 353220
db key
SNOMED CT 282834007
html:p
html:p
html:p
related-gene-list
Primary macronodular adrenal hyperplasia https://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia PMAH is a rare disorder. It is present in less than 1 percent of cases of html:p autosomal dominant APC https://ghr.nlm.nih.gov/gene/APC ACTH-independent macronodular adrenal hyperplasia db key 2015-05 2017-12-29
endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by memo related-gene gene-symbol ghr-page ACTH-independent macronodular adrenocortical hyperplasia GTR C4014803
factors internal to the body rather than by external factors such as long-term not inherited ARMC5 https://ghr.nlm.nih.gov/gene/ARMC5 adrenal Cushing syndrome due to AIMAH db key
use of certain medicines called corticosteroids. The prevalence of endogenous related-gene gene-symbol ghr-page adrenocorticotropic hormone-independent macronodular adrenal hyperplasia MeSH D003480
Cushing syndrome is about 1 in 26,000 people. FH https://ghr.nlm.nih.gov/gene/FH AIMAH db key
related-gene gene-symbol ghr-page corticotropin-independent macronodular adrenal hyperplasia OMIM 219080
GNAS https://ghr.nlm.nih.gov/gene/GNAS PMAH db key
related-gene gene-symbol ghr-page primary bilateral macronodular adrenal hyperplasia OMIM 615954
MC2R https://ghr.nlm.nih.gov/gene/MC2R db key
html:p related-gene gene-symbol ghr-page Orphanet 189427
MEN1 https://ghr.nlm.nih.gov/gene/MEN1 db key
related-gene gene-symbol ghr-page SNOMED CT 237778003
PDE11A https://ghr.nlm.nih.gov/gene/PDE11A
related-gene-list
Primary myelofibrosis https://ghr.nlm.nih.gov/condition/primary-myelofibrosis Primary myelofibrosis is a rare condition that affects approximately 1 in html:p not inherited CALR https://ghr.nlm.nih.gov/gene/CALR agnogenic myeloid metaplasia db key 2014-09 2017-12-29
500,000 people worldwide. related-gene gene-symbol ghr-page chronic idiopathic myelofibrosis GTR C0001815
IDH1 https://ghr.nlm.nih.gov/gene/IDH1 idiopathic myelofibrosis db key
related-gene gene-symbol ghr-page myelofibrosis with myeloid metaplasia MeSH D055728
IDH2 https://ghr.nlm.nih.gov/gene/IDH2 myeloid metaplasia db key
html:p related-gene gene-symbol ghr-page OMIM 254450
JAK2 https://ghr.nlm.nih.gov/gene/JAK2 db key
related-gene gene-symbol ghr-page Orphanet 824
MPL https://ghr.nlm.nih.gov/gene/MPL db key
related-gene gene-symbol ghr-page SNOMED CT 128843003
TET2 https://ghr.nlm.nih.gov/gene/TET2 db key
html:p SNOMED CT 307651005
db key
SNOMED CT 443230004
db key
SNOMED CT 52967002
html:p
synonym-list db-key-list
Primary sclerosing cholangitis https://ghr.nlm.nih.gov/condition/primary-sclerosing-cholangitis An estimated 1 in 10,000 people have primary sclerosing cholangitis, and html:p pattern unknown synonym sclerosing cholangitis key 2017-12-29
the condition is diagnosed in approximately 1 in 100,000 people per year db-key C0566602
worldwide. key
db-key D015209
key
db-key 613806
key
html:p db-key 171
key
197441003
html:p
related-gene-list
Primary spontaneous pneumothorax https://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax Primary spontaneous pneumothorax is more common in men than in women. This html:p autosomal dominant FLCN https://ghr.nlm.nih.gov/gene/FLCN pneumothorax db key 2016-11 2017-12-29
condition occurs in 7.4 to 18 per 100,000 men each year and 1.2 to 6 per 100,000 PSP GTR C1868193
women each year. spontaneous pneumothorax db key
ICD-10-CM J93.11
db key
MeSH D011030
db key
OMIM 173600
db key
Orphanet 2903
html:p db key
SNOMED CT 328561000119107
related-gene-list
Prion disease https://ghr.nlm.nih.gov/condition/prion-disease These disorders are very rare. Although the exact prevalence of prion html:p autosomal dominant PRNP https://ghr.nlm.nih.gov/gene/PRNP inherited human transmissible spongiform encephalopathies db key 2014-01 2017-12-29
disease is unknown, studies suggest that this group of conditions affects about prion-associated disorders GTR C0017495
one person per million worldwide each year. Approximately 350 new cases are prion-induced disorders db key
reported annually in the United States. prion protein diseases GTR C0022336
transmissible dementias db key
transmissible spongiform encephalopathies GTR C0162534
TSEs db key
GTR C0206042
db key
GTR C1855588
db key
GeneReviews prion
db key
ICD-10-CM A81.0
db key
ICD-10-CM A81.00
db key
ICD-10-CM A81.01
db key
ICD-10-CM A81.09
db key
ICD-10-CM A81.81
db key
ICD-10-CM A81.82
db key
ICD-10-CM A81.83
db key
MeSH D017096
db key
OMIM 123400
db key
OMIM 137440
db key
OMIM 245300
db key
OMIM 600072
db key
Orphanet 204
db key
Orphanet 356
db key
Orphanet 466
db key
Orphanet 56970
db key
SNOMED CT 20484008
db key
SNOMED CT 304603007
db key
SNOMED CT 67155006
db key
related-gene-list SNOMED CT 792004
Progressive external ophthalmoplegia https://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia The prevalence of progressive external ophthalmoplegia is unknown. html:p autosomal dominant AFG3L2 https://ghr.nlm.nih.gov/gene/AFG3L2 chronic progressive external ophthalmoplegia db key 2016-05 2017-12-29
memo related-gene gene-symbol ghr-page CPEO GTR C0162674
autosomal recessive DNA2 https://ghr.nlm.nih.gov/gene/DNA2 PEO db key
memo related-gene gene-symbol ghr-page GTR C1834846
mitochondrial MT-TI https://ghr.nlm.nih.gov/gene/MT-TI db key
related-gene gene-symbol ghr-page GTR C1836439
MT-TL1 https://ghr.nlm.nih.gov/gene/MT-TL1 db key
related-gene gene-symbol ghr-page GTR C1836460
OPA1 https://ghr.nlm.nih.gov/gene/OPA1 db key
related-gene gene-symbol ghr-page GeneReviews alpers
POLG https://ghr.nlm.nih.gov/gene/POLG db key
related-gene gene-symbol ghr-page GeneReviews kss
POLG2 https://ghr.nlm.nih.gov/gene/POLG2 db key
related-gene gene-symbol ghr-page GeneReviews rrm2b-mtddepl
html:p RNASEH1 https://ghr.nlm.nih.gov/gene/RNASEH1 db key
related-gene gene-symbol ghr-page ICD-10-CM H49.4
RRM2B https://ghr.nlm.nih.gov/gene/RRM2B db key
related-gene gene-symbol ghr-page ICD-10-CM H49.40
html:p SLC25A4 https://ghr.nlm.nih.gov/gene/SLC25A4 db key
related-gene gene-symbol ghr-page ICD-10-CM H49.41
SPG7 https://ghr.nlm.nih.gov/gene/SPG7 db key
related-gene gene-symbol ghr-page ICD-10-CM H49.42
TK2 https://ghr.nlm.nih.gov/gene/TK2 db key
related-gene gene-symbol ghr-page ICD-10-CM H49.43
TWNK https://ghr.nlm.nih.gov/gene/TWNK db key
related-mitochondrial-dna name ghr-page MeSH D017246
html:p mitochondrial DNA https://ghr.nlm.nih.gov/mitochondrial-dna db key
OMIM 157640
db key
OMIM 258450
db key
OMIM 609283
db key
OMIM 609286
db key
Orphanet 663
db key
related-gene-list SNOMED CT 46252003
Progressive familial heart block https://ghr.nlm.nih.gov/condition/progressive-familial-heart-block The prevalence of progressive familial heart block is unknown. In the html:p autosomal dominant GJA5 https://ghr.nlm.nih.gov/gene/GJA5 bundle branch block db key 2015-04 2017-12-29
United States, about 1 in 5,000 individuals have complete heart block from any related-gene gene-symbol ghr-page HBBD GTR C1841658
cause; worldwide, about 1 in 2,500 individuals have complete heart block. SCN1B https://ghr.nlm.nih.gov/gene/SCN1B hereditary bundle branch defect db key
related-gene gene-symbol ghr-page hereditary bundle branch system defect GTR C1879286
SCN5A https://ghr.nlm.nih.gov/gene/SCN5A Lenegre Lev disease db key
related-gene gene-symbol ghr-page Lev-Lenègre disease GTR C1970298
TRPM4 https://ghr.nlm.nih.gov/gene/TRPM4 Lev syndrome db key
Lev's disease ICD-10-CM Q24.6
PCCD db key
progressive cardiac conduction defect MeSH D006327
db key
html:p OMIM 113900
db key
OMIM 140400
db key
OMIM 604559
db key
Orphanet 871
db key
SNOMED CT 698249005
html:p
html:p
related-gene-list
Progressive familial intrahepatic cholestasis https://ghr.nlm.nih.gov/condition/progressive-familial-intrahepatic-cholestasis PFIC is estimated to affect 1 in 50,000 to 100,000 people worldwide. PFIC html:p autosomal recessive ABCB4 https://ghr.nlm.nih.gov/gene/ABCB4 ABCB4-related intrahepatic cholestasis db key 2009-12 2017-12-29
type 1 is much more common in the Inuit population of Greenland and the Old related-gene gene-symbol ghr-page ABCB11-related intrahepatic cholestasis GTR C0268312
Order Amish population of the United States. ABCB11 https://ghr.nlm.nih.gov/gene/ABCB11 ATP8B1-related intrahepatic cholestasis db key
related-gene gene-symbol ghr-page BSEP deficiency GTR C1865643
html:p ATP8B1 https://ghr.nlm.nih.gov/gene/ATP8B1 Byler disease db key
Byler syndrome GTR C1866138
FIC1 deficiency db key
low γ-GT familial intrahepatic cholestasis GeneReviews pfic
MDR3 deficiency db key
MeSH D002780
html:p db key
OMIM 211600
db key
html:p OMIM 601847
db key
OMIM 602347
db key
Orphanet 172
html:p db key
SNOMED CT 74162007
html:p
related-gene-list
Progressive osseous heteroplasia https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia Progressive osseous heteroplasia is a rare condition. Its exact incidence html:p autosomal dominant GNAS https://ghr.nlm.nih.gov/gene/GNAS cutaneous ossification db key 2009-01 2017-12-29
is unknown. ectopic ossification GTR C0334041
heterotopic ossification db key
myositis ossificans progressiva GeneReviews gnas-dis
osteodermia db key
osteoma cutis ICD-10-CM M61.1
osteosis cutis db key
html:p POH ICD-10-CM M61.10
db key
ICD-10-CM M61.11
db key
ICD-10-CM M61.12
db key
ICD-10-CM M61.13
db key
ICD-10-CM M61.14
db key
ICD-10-CM M61.15
db key
ICD-10-CM M61.16
db key
ICD-10-CM M61.17
db key
ICD-10-CM M61.18
db key
ICD-10-CM M61.19
db key
ICD-10-CM M61.111
db key
ICD-10-CM M61.112
db key
ICD-10-CM M61.119
db key
ICD-10-CM M61.121
db key
ICD-10-CM M61.122
db key
ICD-10-CM M61.129
db key
ICD-10-CM M61.131
db key
ICD-10-CM M61.132
db key
ICD-10-CM M61.139
db key
ICD-10-CM M61.141
db key
ICD-10-CM M61.142
db key
ICD-10-CM M61.143
db key
ICD-10-CM M61.144
db key
ICD-10-CM M61.145
db key
ICD-10-CM M61.146
db key
ICD-10-CM M61.151
db key
ICD-10-CM M61.152
db key
ICD-10-CM M61.159
db key
ICD-10-CM M61.161
db key
ICD-10-CM M61.162
db key
ICD-10-CM M61.169
db key
ICD-10-CM M61.171
db key
ICD-10-CM M61.172
db key
ICD-10-CM M61.173
db key
ICD-10-CM M61.174
db key
ICD-10-CM M61.175
db key
ICD-10-CM M61.176
db key
ICD-10-CM M61.177
db key
ICD-10-CM M61.178
db key
ICD-10-CM M61.179
db key
MeSH D009999
db key
OMIM 166350
db key
Orphanet 2762
db key
related-gene-list SNOMED CT 719271000
Progressive pseudorheumatoid dysplasia https://ghr.nlm.nih.gov/condition/progressive-pseudorheumatoid-dysplasia PPRD has been estimated to occur in approximately 1 per million people in html:p autosomal recessive WISP3 https://ghr.nlm.nih.gov/gene/WISP3 progressive pseudorheumatoid arthropathy of childhood db key 2013-04 2017-12-29
the United Kingdom. The condition is thought to be more common in Turkey and the spondyloepiphyseal dysplasia tarda with progressive arthropathy GTR C0432215
Middle East, although its prevalence in these regions is unknown. The condition db key
in all regions is likely underdiagnosed because it is often misdiagnosed as GeneReviews ppr-dysp
juvenile rheumatoid arthritis. db key
html:p MeSH D010009
db key
OMIM 208230
db key
Orphanet 1159
db key
SNOMED CT 254065005
html:p
related-gene-list
Progressive supranuclear palsy https://ghr.nlm.nih.gov/condition/progressive-supranuclear-palsy The exact prevalence of progressive supranuclear palsy is unknown. It may html:p autosomal dominant MAPT https://ghr.nlm.nih.gov/gene/MAPT progressive supranuclear ophthalmoplegia db key 2015-05 2017-12-29
affect about 6 in 100,000 people worldwide. memo PSP GTR C0038868
pattern unknown Richardson's syndrome db key
Steele-Richardson-Olszewski syndrome GTR C1836148
supranuclear palsy, progressive db key
GTR C1970476
html:p db key
GeneReviews ftdp-17
db key
ICD-10-CM G23.1
db key
MeSH D013494
db key
html:p OMIM 601104
db key
OMIM 609454
db key
OMIM 610898
db key
Orphanet 683
html:p db key
SNOMED CT 28978003
related-gene-list
Prolidase deficiency https://ghr.nlm.nih.gov/condition/prolidase-deficiency Prolidase deficiency is a rare disorder. Approximately 70 individuals with html:p autosomal recessive PEPD https://ghr.nlm.nih.gov/gene/PEPD hyperimidodipeptiduria db key 2012-02 2017-12-29
this disorder have been documented in the medical literature, and researchers imidodipeptidase deficiency GTR C0268532
have estimated that the condition occurs in approximately 1 in 1 million to 1 in PD db key
2 million newborns. It is more common in certain areas in northern Israel, both peptidase deficiency GeneReviews prolidase-def
among members of a religious minority called the Druze and in nearby Arab db key
Moslem populations. MeSH D056732
db key
OMIM 170100
html:p db key
Orphanet 742
db key
SNOMED CT 360969006
db key
SNOMED CT 360994007
html:p db key
SNOMED CT 410055005
html:p
related-gene-list
Proopiomelanocortin deficiency https://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency POMC deficiency is a rare condition; approximately 50 cases have been html:p autosomal recessive POMC https://ghr.nlm.nih.gov/gene/POMC obesity, early-onset, adrenal insufficiency, and red hair db key 2014-02 2017-12-29
reported in the medical literature. POMC deficiency GTR C1857854
db key
GeneReviews pomc-def
html:p db key
MeSH D009767
db key
OMIM 609734
db key
Orphanet 71526
html:p db key
SNOMED CT 702949005
html:p
related-gene-list
Propionic acidemia https://ghr.nlm.nih.gov/condition/propionic-acidemia Propionic acidemia affects about 1 in 100,000 people in the United States. html:p autosomal recessive PCCA https://ghr.nlm.nih.gov/gene/PCCA hyperglycinemia with ketoacidosis and leukopenia db key 2007-07 2017-12-29
The condition appears to be more common in several populations worldwide, related-gene gene-symbol ghr-page ketotic glycinemia GTR C0268579
including the Inuit population of Greenland, some Amish communities, and Saudi PCCB https://ghr.nlm.nih.gov/gene/PCCB ketotic hyperglycinemia db key
Arabians. PCC deficiency GeneReviews propionic-a
PROP db key
propionicacidemia ICD-10-CM E71.121
html:p propionyl-CoA carboxylase deficiency db key
MeSH D056693
db key
OMIM 606054
db key
html:p Orphanet 35
db key
SNOMED CT 124718009
db key
SNOMED CT 399087009
db key
SNOMED CT 399149003
db key
related-gene-list SNOMED CT 69080001
Prostate cancer https://ghr.nlm.nih.gov/condition/prostate-cancer About 1 in 7 men will be diagnosed with prostate cancer at some time during html:p autosomal dominant AR https://ghr.nlm.nih.gov/gene/AR cancer of the prostate db key 2015-04 2017-12-29
their life. In addition, studies indicate that many older men have undiagnosed memo related-gene gene-symbol ghr-page malignant neoplasm of the prostate GTR C1836005
prostate cancer that is non- and unlikely to cause symptoms or affect not inherited BRCA1 https://ghr.nlm.nih.gov/gene/BRCA1 prostate carcinoma db key
their lifespan. While most men who are diagnosed with prostate cancer do not die memo related-gene gene-symbol ghr-page prostate neoplasm GTR C1836436
from it, this common cancer is still the second leading cause of cancer death pattern unknown BRCA2 https://ghr.nlm.nih.gov/gene/BRCA2 prostatic cancer db key
among men in the United States.More than 60 percent of prostate cancers are html:p related-gene gene-symbol ghr-page prostatic carcinoma GTR C1837593
diagnosed after age 65, and the disorder is rare before age 40. In the United CD82 https://ghr.nlm.nih.gov/gene/CD82 prostatic neoplasm db key
States, African Americans have a higher risk of developing prostate cancer than related-gene gene-symbol ghr-page GTR C1837595
do men of other ethnic backgrounds, and they also have a higher risk of dying CDH1 https://ghr.nlm.nih.gov/gene/CDH1 db key
from the disease. related-gene gene-symbol ghr-page GTR C1843533
CHEK2 https://ghr.nlm.nih.gov/gene/CHEK2 db key
related-gene gene-symbol ghr-page GTR C1846279
EHBP1 https://ghr.nlm.nih.gov/gene/EHBP1 db key
related-gene gene-symbol ghr-page GTR C1853195
html:p ELAC2 https://ghr.nlm.nih.gov/gene/ELAC2 db key
related-gene gene-symbol ghr-page GTR C1863600
EP300 https://ghr.nlm.nih.gov/gene/EP300 db key
related-gene gene-symbol ghr-page GTR C1864472
EPHB2 https://ghr.nlm.nih.gov/gene/EPHB2 db key
html:p related-gene gene-symbol ghr-page GTR C1970192
EZH2 https://ghr.nlm.nih.gov/gene/EZH2 db key
related-gene gene-symbol ghr-page GTR C1970250
FGFR2 https://ghr.nlm.nih.gov/gene/FGFR2 db key
related-gene gene-symbol ghr-page GTR C2677771
FGFR4 https://ghr.nlm.nih.gov/gene/FGFR4 db key
related-gene gene-symbol ghr-page GTR C2677772
html:p GNMT https://ghr.nlm.nih.gov/gene/GNMT db key
related-gene gene-symbol ghr-page GTR C2677773
HNF1B https://ghr.nlm.nih.gov/gene/HNF1B db key
related-gene gene-symbol ghr-page GTR C2677821
HOXB13 https://ghr.nlm.nih.gov/gene/HOXB13 db key
related-gene gene-symbol ghr-page GTR C2678047
HPCX https://ghr.nlm.nih.gov/gene/HPCX db key
related-gene gene-symbol ghr-page GTR C2678479
IGF2 https://ghr.nlm.nih.gov/gene/IGF2 db key
related-gene gene-symbol ghr-page GTR C2931456
ITGA6 https://ghr.nlm.nih.gov/gene/ITGA6 db key
related-gene gene-symbol ghr-page GTR C3539120
KLF6 https://ghr.nlm.nih.gov/gene/KLF6 db key
related-gene gene-symbol ghr-page GTR CN036094
LRP2 https://ghr.nlm.nih.gov/gene/LRP2 db key
related-gene gene-symbol ghr-page ICD-10-CM C61
MAD1L1 https://ghr.nlm.nih.gov/gene/MAD1L1 db key
related-gene gene-symbol ghr-page MeSH D011471
MED12 https://ghr.nlm.nih.gov/gene/MED12 db key
related-gene gene-symbol ghr-page OMIM 176807
MSMB https://ghr.nlm.nih.gov/gene/MSMB db key
related-gene gene-symbol ghr-page OMIM 300147
MSR1 https://ghr.nlm.nih.gov/gene/MSR1 db key
related-gene gene-symbol ghr-page OMIM 300704
MXI1 https://ghr.nlm.nih.gov/gene/MXI1 db key
related-gene gene-symbol ghr-page OMIM 601518
NBN https://ghr.nlm.nih.gov/gene/NBN db key
related-gene gene-symbol ghr-page OMIM 602759
PCAP https://ghr.nlm.nih.gov/gene/PCAP db key
related-gene gene-symbol ghr-page OMIM 603688
PCNT https://ghr.nlm.nih.gov/gene/PCNT db key
related-gene gene-symbol ghr-page OMIM 604845
PLXNB1 https://ghr.nlm.nih.gov/gene/PLXNB1 db key
related-gene gene-symbol ghr-page OMIM 605095
PTEN https://ghr.nlm.nih.gov/gene/PTEN db key
related-gene gene-symbol ghr-page OMIM 605099
RNASEL https://ghr.nlm.nih.gov/gene/RNASEL db key
related-gene gene-symbol ghr-page OMIM 607592
SRD5A2 https://ghr.nlm.nih.gov/gene/SRD5A2 db key
related-gene gene-symbol ghr-page OMIM 608656
STAT3 https://ghr.nlm.nih.gov/gene/STAT3 db key
related-gene gene-symbol ghr-page OMIM 608658
TGFBR1 https://ghr.nlm.nih.gov/gene/TGFBR1 db key
related-gene gene-symbol ghr-page OMIM 609299
WRN https://ghr.nlm.nih.gov/gene/WRN db key
related-gene gene-symbol ghr-page OMIM 609558
WT1 https://ghr.nlm.nih.gov/gene/WT1 db key
related-gene gene-symbol ghr-page OMIM 609717
ZFHX3 https://ghr.nlm.nih.gov/gene/ZFHX3 db key
OMIM 610321
db key
OMIM 610997
db key
OMIM 611100
db key
OMIM 611868
db key
OMIM 611928
db key
OMIM 611955
db key
OMIM 611958
db key
OMIM 611959
db key
OMIM 614731
db key
OMIM 615452
db key
Orphanet 1331
db key
related-gene-list SNOMED CT 399068003
Protein C deficiency https://ghr.nlm.nih.gov/condition/protein-c-deficiency Mild protein C deficiency affects approximately 1 in 500 individuals. html:p autosomal dominant PROC https://ghr.nlm.nih.gov/gene/PROC hereditary thrombophilia due to protein C deficiency db key 2013-05 2017-12-29
Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million PROC deficiency GTR C2674321
newborns. html:p db key
MeSH D020151
db key
OMIM 176860
db key
OMIM 612304
db key
Orphanet 745
db key
SNOMED CT 439274008
html:p db key
SNOMED CT 441101007
db key
SNOMED CT 441188004
db key
SNOMED CT 76407009
related-gene-list
Protein S deficiency https://ghr.nlm.nih.gov/condition/protein-s-deficiency Mild protein S deficiency is estimated to occur in approximately 1 in 500 html:p autosomal dominant PROS1 https://ghr.nlm.nih.gov/gene/PROS1 hereditary thrombophilia due to protein S deficiency db key 2009-10 2017-12-29
individuals. Severe protein S deficiency is rare; however, its exact prevalence GTR C2676728
is unknown. html:p db key
MeSH D018455
db key
OMIM 612336
db key
Orphanet 743
db key
SNOMED CT 1563006
db key
html:p SNOMED CT 439702007
db key
SNOMED CT 440988005
db key
SNOMED CT 441189007
related-gene-list
Proteus syndrome https://ghr.nlm.nih.gov/condition/proteus-syndrome Proteus syndrome is a rare condition with an incidence of less than 1 in 1 html:p pattern unknown AKT1 https://ghr.nlm.nih.gov/gene/AKT1 PS db key 2012-06 2017-12-29
million people worldwide. Only a few hundred affected individuals have been GTR C0085261
reported in the medical literature.Researchers believe that Proteus syndrome may db key
be overdiagnosed, as some individuals with other conditions featuring GeneReviews proteus
asymmetric overgrowth have been mistakenly diagnosed with Proteus syndrome. To db key
make an accurate diagnosis, most doctors and researchers now follow a set of MeSH D016715
strict guidelines that define the signs and symptoms of Proteus syndrome. html:p db key
OMIM 176920
db key
Orphanet 744
db key
SNOMED CT 23150001
html:p
html:p
related-gene-list
Prothrombin deficiency https://ghr.nlm.nih.gov/condition/prothrombin-deficiency Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 html:p autosomal recessive F2 https://ghr.nlm.nih.gov/gene/F2 dysprothrombinemia db key 2013-11 2017-12-29
million people in the general population. factor II deficiency GTR C0020640
hypoprothrombinemia db key
ICD-10-CM D68.2
db key
MeSH D007020
db key
OMIM 613679
db key
Orphanet 325
db key
related-gene-list SNOMED CT 73975000
Prothrombin thrombophilia https://ghr.nlm.nih.gov/condition/prothrombin-thrombophilia Prothrombin thrombophilia is the second most common inherited form of html:p pattern unknown F2 https://ghr.nlm.nih.gov/gene/F2 hyperprothrombinemia db key 2008-08 2017-12-29
thrombophilia after factor V Leiden thrombophilia. Approximately 1 in 50 people Prothrombin G20210A Thrombophilia GTR C0398623
in the white population in the United States and Europe has prothrombin db key
thrombophilia. This condition is less common in other ethnic groups, occurring GeneReviews ptt
in less than one percent of African American, Native American, or Asian db key
populations. ICD-10-CM D68.52
db key
MeSH D019851
html:p db key
OMIM 176930
db key
OMIM 188050
db key
SNOMED CT 440989002
db key
SNOMED CT 441420000
db key
related-gene-list SNOMED CT 441421001
Proximal 18q deletion syndrome https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome Deletions from the q arm of chromosome 18 occur in an estimated 1 in 40,000 html:p autosomal dominant 18 https://ghr.nlm.nih.gov/chromosome/18 18q deletion syndrome db key 2017-02 2017-12-29
newborns worldwide. However, only a small number of these individuals have 18q- syndrome GTR C0432443
deletions in the region associated with proximal 18q deletion syndrome. At least chromosome 18 deletion syndrome db key
15 people with proximal 18q deletion syndrome have been described in the chromosome 18 long arm deletion syndrome MeSH D025063
medical literature. chromosome 18q monosomy db key
chromosome 18q- syndrome OMIM 601808
del(18q) syndrome
html:p monosomy 18q
html:p
related-gene-list
Pseudoachondroplasia https://ghr.nlm.nih.gov/condition/pseudoachondroplasia The exact prevalence of pseudoachondroplasia is unknown; it is estimated to html:p autosomal dominant COMP https://ghr.nlm.nih.gov/gene/COMP PSACH db key 2013-01 2017-12-29
occur in 1 in 30,000 individuals. pseudoachondroplastic dysplasia GTR C0410538
pseudoachondroplastic spondyloepiphyseal dysplasia syndrome db key
GeneReviews psach
html:p db key
MeSH D004392
db key
OMIM 177170
db key
html:p Orphanet 750
db key
SNOMED CT 22567005
related-gene-list
Pseudocholinesterase deficiency https://ghr.nlm.nih.gov/condition/pseudocholinesterase-deficiency Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. html:p autosomal recessive BCHE https://ghr.nlm.nih.gov/gene/BCHE butyrylcholinesterase deficiency db key 2012-04 2017-12-29
It is more common in certain populations, such as the Persian Jewish community cholinesterase II deficiency GTR C1283400
and Alaska Natives. deficiency of butyrylcholine esterase db key
pseudocholinesterase E1 deficiency MeSH D008661
succinylcholine sensitivity db key
suxamethonium sensitivity OMIM 177400
db key
Orphanet 132
db key
SNOMED CT 191397007
db key
SNOMED CT 360589003
html:p db key
SNOMED CT 360607009
db key
SNOMED CT 418059000
related-gene-list
Pseudohypoaldosteronism type 1 https://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-1 PHA1 is a rare condition that has been estimated to affect 1 in 80,000 html:p autosomal dominant NR3C2 https://ghr.nlm.nih.gov/gene/NR3C2 PHA1 db key 2011-12 2017-12-29
newborns. memo related-gene gene-symbol ghr-page pseudohypoaldosteronism type I GTR C1449842
autosomal recessive SCNN1A https://ghr.nlm.nih.gov/gene/SCNN1A db key
related-gene gene-symbol ghr-page GTR C1449843
SCNN1B https://ghr.nlm.nih.gov/gene/SCNN1B db key
related-gene gene-symbol ghr-page MeSH D011546
SCNN1G https://ghr.nlm.nih.gov/gene/SCNN1G db key
OMIM 177735
html:p db key
OMIM 264350
db key
Orphanet 756
db key
Orphanet 171871
db key
Orphanet 171876
html:p db key
SNOMED CT 43941006
html:p
related-gene-list
Pseudohypoaldosteronism type 2 https://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-2 PHA2 is a rare condition; however, the prevalence is unknown. html:p autosomal dominant CUL3 https://ghr.nlm.nih.gov/gene/CUL3 familial hyperkalemic hypertension db key 2016-03 2017-12-29
memo related-gene gene-symbol ghr-page familial hyperpotassemia and hypertension GTR C1449844
autosomal recessive KLHL3 https://ghr.nlm.nih.gov/gene/KLHL3 familial hypertensive hyperkalemia db key
related-gene gene-symbol ghr-page FHHt GeneReviews pha2
html:p WNK1 https://ghr.nlm.nih.gov/gene/WNK1 Gordon hyperkalemia-hypertension syndrome db key
related-gene gene-symbol ghr-page Gordon's syndrome MeSH D011546
WNK4 https://ghr.nlm.nih.gov/gene/WNK4 PHAII db key
pseudohypoaldosteronism type II OMIM 145260
db key
OMIM 614491
db key
OMIM 614492
db key
OMIM 614495
db key
OMIM 614496
db key
Orphanet 757
db key
related-gene-list SNOMED CT 15689008
Pseudoxanthoma elasticum https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum PXE affects approximately 1 in 50,000 people worldwide. For reasons that html:p autosomal dominant ABCC6 https://ghr.nlm.nih.gov/gene/ABCC6 Groenblad-Strandberg syndrome db key 2015-01 2017-12-29
are unclear, this disorder is diagnosed twice as frequently in females as in memo Gronblad-Strandberg syndrome GTR C0033847
males. autosomal recessive PXE db key
GeneReviews pxe
html:p db key
MeSH D011561
db key
OMIM 177850
db key
OMIM 264800
db key
Orphanet 758
db key
html:p SNOMED CT 252246005
db key
SNOMED CT 72744008
related-gene-list
Psoriatic arthritis https://ghr.nlm.nih.gov/condition/psoriatic-arthritis Psoriatic arthritis affects an estimated 24 in 10,000 people.Between 5 and html:p pattern unknown CARD14 https://ghr.nlm.nih.gov/gene/CARD14 arthropathic psoriasis db key 2014-08 2017-12-29
10 percent of people with psoriasis develop psoriatic arthritis, according to related-gene gene-symbol ghr-page psoriatic arthropathy GTR C1835223
most estimates. Some studies suggest a figure as high as 30 percent. Psoriasis HLA-B https://ghr.nlm.nih.gov/gene/HLA-B db key
itself is a common disorder, affecting approximately 2 to 3 percent of the related-gene gene-symbol ghr-page ICD-10-CM L40.5
population worldwide. HLA-C https://ghr.nlm.nih.gov/gene/HLA-C db key
related-gene gene-symbol ghr-page ICD-10-CM L40.50
html:p HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 db key
related-gene gene-symbol ghr-page ICD-10-CM L40.51
IL12B https://ghr.nlm.nih.gov/gene/IL12B db key
related-gene gene-symbol ghr-page ICD-10-CM L40.52
html:p IL13 https://ghr.nlm.nih.gov/gene/IL13 db key
related-gene gene-symbol ghr-page ICD-10-CM L40.53
IL23R https://ghr.nlm.nih.gov/gene/IL23R db key
related-gene gene-symbol ghr-page ICD-10-CM L40.54
TRAF3IP2 https://ghr.nlm.nih.gov/gene/TRAF3IP2 db key
html:p ICD-10-CM L40.59
db key
MeSH D015535
db key
html:p OMIM 607507
db key
SNOMED CT 33339001
html:p
html:p
html:p
html:p
related-gene-list
Pulmonary alveolar microlithiasis https://ghr.nlm.nih.gov/condition/pulmonary-alveolar-microlithiasis Pulmonary alveolar microlithiasis is a rare disorder; its prevalence is html:p autosomal recessive SLC34A2 https://ghr.nlm.nih.gov/gene/SLC34A2 PAM db key 2014-12 2017-12-29
unknown. About 600 affected individuals have been described in the medical GTR C0155912
literature, of whom about a quarter are of Turkish descent. The remainder come db key
from populations worldwide. ICD-10-CM J84.02
db key
MeSH D017563
db key
OMIM 265100
html:p db key
Orphanet 60025
db key
SNOMED CT 87153008
html:p
related-gene-list
Pulmonary arterial hypertension https://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension In the United States, about 1,000 new cases of pulmonary arterial html:p autosomal dominant ACVRL1 https://ghr.nlm.nih.gov/gene/ACVRL1 Ayerza syndrome db key 2016-01 2017-12-29
hypertension are diagnosed each year. This disorder is twice as common in related-gene gene-symbol ghr-page familial primary pulmonary hypertension GTR C0152171
females as in males. BMPR1B https://ghr.nlm.nih.gov/gene/BMPR1B FPPH db key
related-gene gene-symbol ghr-page idiopathic pulmonary hypertension GTR C3809192
BMPR2 https://ghr.nlm.nih.gov/gene/BMPR2 PAH db key
related-gene gene-symbol ghr-page PPH GTR C3809198
CAV1 https://ghr.nlm.nih.gov/gene/CAV1 PPHT db key
related-gene gene-symbol ghr-page primary pulmonary hypertension GTR C3888002
CBLN2 https://ghr.nlm.nih.gov/gene/CBLN2 sporadic primary pulmonary hypertension db key
related-gene gene-symbol ghr-page GeneReviews pph
html:p EIF2AK4 https://ghr.nlm.nih.gov/gene/EIF2AK4 db key
related-gene gene-symbol ghr-page ICD-10-CM I27.0
ENG https://ghr.nlm.nih.gov/gene/ENG db key
related-gene gene-symbol ghr-page MeSH D065627
KCNA5 https://ghr.nlm.nih.gov/gene/KCNA5 db key
related-gene gene-symbol ghr-page OMIM 178600
KCNK3 https://ghr.nlm.nih.gov/gene/KCNK3 db key
related-gene gene-symbol ghr-page OMIM 615342
SMAD9 https://ghr.nlm.nih.gov/gene/SMAD9 db key
OMIM 615343
db key
OMIM 615344
db key
Orphanet 422
db key
Orphanet 182090
db key
Orphanet 275766
db key
Orphanet 275777
db key
SNOMED CT 233943009
db key
SNOMED CT 233944003
db key
SNOMED CT 697897003
db key
related-gene-list SNOMED CT 78862003
Pulmonary veno-occlusive disease https://ghr.nlm.nih.gov/condition/pulmonary-veno-occlusive-disease The exact prevalence of PVOD is unknown. Many cases are likely misdiagnosed html:p autosomal dominant BMPR2 https://ghr.nlm.nih.gov/gene/BMPR2 isolated pulmonary venous sclerosis db key 2015-03 2017-12-29
as idiopathic pulmonary arterial hypertension, which is increased blood memo related-gene gene-symbol ghr-page obstructive disease of the pulmonary veins GTR C0034091
pressure in the pulmonary arteries without a known cause. Research suggests that autosomal recessive EIF2AK4 https://ghr.nlm.nih.gov/gene/EIF2AK4 pulmonary venoocclusive disease db key
5 to 25 percent of people diagnosed with idiopathic pulmonary arterial PVOD MeSH D011668
hypertension have PVOD. Based on these numbers, PVOD is thought to affect an venous form of primary pulmonary hypertension db key
estimated 1 to 2 per 10 million people. OMIM 234810
db key
OMIM 265450
html:p db key
Orphanet 31837
db key
SNOMED CT 89420002
html:p
html:p
inheritance-pattern-list related-gene-list
PURA syndrome https://ghr.nlm.nih.gov/condition/pura-syndrome PURA syndrome is a rare condition affecting at least 70 individuals. It is html:p ad autosomal dominant ghr-page PURA-related neurodevelopmental disorder db-key db key 2017-08 2017-12-29
estimated to account for fewer than 1 percent of cases of developmental delay. https://ghr.nlm.nih.gov/gene/PURA PURA-related severe neonatal --encephalopathy syndrome GeneReviews pura-dis
db-key db key
MeSH D065886
db-key db key
Orphanet 438213
html:p
html:p
related-gene-list
Purine nucleoside phosphorylase deficiency https://ghr.nlm.nih.gov/condition/purine-nucleoside-phosphorylase-deficiency Purine nucleoside phosphorylase deficiency is rare; only about 70 affected html:p autosomal recessive PNP https://ghr.nlm.nih.gov/gene/PNP nucleoside phosphorylase deficiency db key 2012-04 2017-12-29
individuals have been identified. This disorder accounts for approximately 4 PNP deficiency GTR C0268125
percent of all SCID cases. db key
ICD-10-CM D81.5
db key
MeSH D016511
db key
OMIM 613179
db key
Orphanet 760
html:p db key
SNOMED CT 60743005
related-gene-list
Pyle disease https://ghr.nlm.nih.gov/condition/pyle-disease Pyle disease is thought to be a rare disorder, although its prevalence is html:p autosomal recessive SFRP4 https://ghr.nlm.nih.gov/gene/SFRP4 metaphyseal dysplasia, Pyle type db key 2017-03 2017-12-29
unknown. More than 25 cases have been described in the medical literature. Pyle metaphyseal dysplasia GTR C0265294
Pyle's disease db key
Pyle's metaphyseal dysplasia syndrome ICD-10-CM Q78.5
db key
MeSH D010009
db key
OMIM 265900
html:p db key
Orphanet 3005
db key
SNOMED CT 27837003
related-gene-list
Pyridoxal 5'-phosphate-dependent https://ghr.nlm.nih.gov/condition/pyridoxal-5-phosphate-dependent- Pyridoxal 5'-phosphate-dependent is a rare condition; html:p autosomal recessive PNPO https://ghr.nlm.nih.gov/gene/PNPO PNPO Deficiency db key 2008-06 2017-12-29
approximately 14 cases have been described in the scientific literature. PNPO-Related Neonatal Epileptic Encephalopathy GTR C1864723
pyridoxamine 5-prime-phosphate oxidase deficiency db key
pyridoxine-5'-phosphate oxidase deficiency MeSH D004827
db key
OMIM 610090
db key
html:p Orphanet 79096
db key
SNOMED CT 124174008
related-gene-list
Pyridoxine-dependent https://ghr.nlm.nih.gov/condition/pyridoxine-dependent- Pyridoxine-dependent occurs in 1 in 100,000 to 700,000 html:p autosomal recessive ALDH7A1 https://ghr.nlm.nih.gov/gene/ALDH7A1 AASA dehydrogenase deficiency db key 2013-02 2017-12-29
individuals. At least 100 cases have been reported worldwide. EPD GTR C1849508
, pyridoxine-dependent db key
PDE GeneReviews pds
pyridoxine dependency db key
Pyridoxine Dependency MeSH D012640
pyridoxine dependency with db key
pyridoxine-dependent OMIM 266100
html:p vitamin B6-dependent db key
Orphanet 3006
db key
SNOMED CT 28602001
related-gene-list
Pyruvate carboxylase deficiency https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency Pyruvate carboxylase deficiency is a rare condition, with an estimated html:p autosomal recessive PC https://ghr.nlm.nih.gov/gene/PC ataxia with lactic acidosis, type II db key 2017-08 2017-12-29
incidence of 1 in 250,000 births worldwide. Type A appears to be much more Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency GTR C0034341
common in some Algonkian Indian tribes in eastern Canada. Leigh syndrome due to pyruvate carboxylase deficiency db key
PC deficiency GeneReviews pdc
html:p pyruvate carboxylase deficiency disease db key
type II ataxia with lactic acidosis ICD-10-CM E74.4
db key
MeSH D015324
db key
OMIM 266150
db key
Orphanet 3008
db key
SNOMED CT 87694001
html:p
html:p
related-gene-list
Pyruvate dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency Pyruvate dehydrogenase deficiency is believed to be a rare condition; html:p autosomal recessive DLAT https://ghr.nlm.nih.gov/gene/DLAT ataxia with lactic acidosis db key 2012-07 2017-12-29
however, its prevalence is unknown. memo related-gene gene-symbol ghr-page intermittent ataxia with pyruvate dehydrogenase deficiency GTR C0034345
X-linked recessive PDHA1 https://ghr.nlm.nih.gov/gene/PDHA1 PDH deficiency db key
related-gene gene-symbol ghr-page PDHC deficiency GTR C1837429
PDHB https://ghr.nlm.nih.gov/gene/PDHB pyruvate dehydrogenase complex deficiency db key
related-gene gene-symbol ghr-page GTR C1839413
PDHX https://ghr.nlm.nih.gov/gene/PDHX db key
related-gene gene-symbol ghr-page GTR C1855553
PDP1 https://ghr.nlm.nih.gov/gene/PDP1 db key
GTR C1855565
db key
GTR C3279841
db key
MeSH D015325
db key
OMIM 245348
db key
OMIM 245349
db key
OMIM 312170
db key
OMIM 608782
db key
OMIM 614111
db key
Orphanet 765
db key
related-gene-list SNOMED CT 46683007
Pyruvate kinase deficiency https://ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency Pyruvate kinase deficiency is the most common inherited cause of html:p autosomal recessive PKLR https://ghr.nlm.nih.gov/gene/PKLR PK deficiency db key 2012-04 2017-12-29
nonspherocytic hemolytic anemia. More than 500 affected families have been PKD GTR C1849472
identified, and studies suggest that the disorder may be underdiagnosed because db key
mild cases may not be identified.Pyruvate kinase deficiency is found in all ICD-10-CM D55.2
ethnic groups. Its prevalence has been estimated at 1 in 20,000 people of db key
European descent. It is more common in the Old Order Amish population of MeSH D000745
Pennsylvania. db key
OMIM 266200
db key
html:p Orphanet 766
db key
SNOMED CT 124331002
html:p
related-gene-list
Rabson-Mendenhall syndrome https://ghr.nlm.nih.gov/condition/rabson-mendenhall-syndrome Rabson-Mendenhall syndrome is estimated to affect less than 1 per million html:p autosomal recessive INSR https://ghr.nlm.nih.gov/gene/INSR Mendenhall syndrome db key 2014-12 2017-12-29
people worldwide. Several dozen cases have been reported in the medical pineal hyperplasia and diabetes mellitus syndrome GTR C0271695
literature. pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic db key
abnormalities MeSH D056731
RMS db key
OMIM 262190
db key
Orphanet 769
html:p db key
SNOMED CT 33559001
html:p
related-gene-list
RAPADILINO syndrome https://ghr.nlm.nih.gov/condition/rapadilino-syndrome RAPADILINO syndrome is a rare condition, although its worldwide prevalence html:p autosomal recessive RECQL4 https://ghr.nlm.nih.gov/gene/RECQL4 absent thumbs, dislocated joints, long face with narrow palpebral fissures, long db key 2013-08 2017-12-29
is unknown. The condition was first identified in Finland, where it affects an slender nose, arched palate GTR C1849453
estimated 1 in 75,000 individuals, although it has since been found in other radial and patellar aplasia db key
regions. html:p radial and patellar hypoplasia MeSH D001848
db key
OMIM 266280
db key
Orphanet 3021
html:p db key
SNOMED CT 702413000
html:p
html:p
html:p
related-gene-list
Rapid-onset dystonia parkinsonism https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism Rapid-onset dystonia parkinsonism appears to be a rare disorder, although html:p autosomal dominant ATP1A3 https://ghr.nlm.nih.gov/gene/ATP1A3 DYT12 db key 2009-07 2017-12-29
its prevalence is unknown. It has been diagnosed in individuals and families RDP GTR C1868681
from the United States, Europe, and Korea. RODP db key
GeneReviews rapid-odp
db key
MeSH D020821
html:p db key
OMIM 128235
db key
Orphanet 71517
db key
SNOMED CT 702323008
html:p
html:p
related-gene-list
Recombinant 8 syndrome https://ghr.nlm.nih.gov/condition/recombinant-8-syndrome Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. html:p autosomal dominant 8 https://ghr.nlm.nih.gov/chromosome/8 rec(8) syndrome db key 2009-04 2017-12-29
Most people with this condition are descended from a Hispanic population recombinant chromosome 8 syndrome GTR C0795822
originating in the San Luis Valley area of southern Colorado and northern New San Luis Valley syndrome db key
Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. Only a MeSH D025063
few cases outside this population have been found. db key
OMIM 179613
db key
Orphanet 96167
db key
SNOMED CT 718189004
related-gene-list
Recurrent hydatidiform mole https://ghr.nlm.nih.gov/condition/recurrent-hydatidiform-mole Hydatidiform moles occur in 1 in 600 to 1,000 pregnancies in western html:p autosomal recessive KHDC3L https://ghr.nlm.nih.gov/gene/KHDC3L familial biparental hydatidiform mole db key 2014-10 2017-12-29
countries and are more common in developing countries. One to six percent of related-gene gene-symbol ghr-page familial recurrent hydatidiform mole GTR C0678213
previously affected women will have a recurrent hydatidiform mole. NLRP7 https://ghr.nlm.nih.gov/gene/NLRP7 FRHM db key
GTR C2931618
db key
ICD-10-CM O01.0
db key
html:p MeSH D006828
db key
OMIM 231090
db key
OMIM 614293
html:p db key
Orphanet 99927
db key
SNOMED CT 237249000
related-gene-list
Refsum disease https://ghr.nlm.nih.gov/condition/refsum-disease The prevalence of Refsum disease is unknown, although the condition is html:p autosomal recessive PEX7 https://ghr.nlm.nih.gov/gene/PEX7 adult Refsum disease db key 2016-11 2017-12-29
thought to be uncommon. related-gene gene-symbol ghr-page ARD GTR C0034960
html:p PHYH https://ghr.nlm.nih.gov/gene/PHYH classic Refsum disease db key
CRD GeneReviews refsum
hereditary motor and sensory neuropathy Type IV db key
heredopathia atactica polyneuritiformis GeneReviews rp-overview
HMSN IV db key
HMSN type IV ICD-10-CM G60.1
phytanic acid storage disease db key
html:p Refsum syndrome MeSH D012035
Refsum's disease db key
OMIM 266500
db key
Orphanet 773
db key
SNOMED CT 25362006
inheritance-pattern-list related-gene-list
REN-related kidney disease https://ghr.nlm.nih.gov/condition/ren-related-kidney-disease REN-related kidney disease is a rare condition. At least three families html:p ad autosomal dominant ghr-page Familial juvenile hyperuricemic nephropathy 2 db-key db key 2010-01 2017-12-29
with this condition have been identified. https://ghr.nlm.nih.gov/gene/REN GTR C2751310
db-key db key
GeneReviews hyper-nfj2
db-key db key
MeSH D007674
html:p db-key db key
OMIM 613092
db-key db key
SNOMED CT 46785007
html:p
related-gene-list
Renal coloboma syndrome https://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome The prevalence of renal coloboma syndrome is unknown; at least 60 cases html:p autosomal dominant PAX2 https://ghr.nlm.nih.gov/gene/PAX2 coloboma of optic nerve with renal disease db key 2008-07 2017-12-29
have been reported in the scientific literature. coloboma-ureteral-renal syndrome GTR C1852759
ONCR db key
optic coloboma, vesicoureteral reflux, and renal anomalies GeneReviews papr
optic nerve coloboma renal syndrome db key
papillorenal syndrome MeSH D003103
RCS db key
renal-coloboma syndrome MeSH D007674
html:p db key
OMIM 120330
db key
Orphanet 1475
db key
SNOMED CT 446449009
html:p
related-gene-list
Renal hypouricemia https://ghr.nlm.nih.gov/condition/renal-hypouricemia The prevalence of renal hypouricemia is unknown; at least 150 affected html:p autosomal recessive SLC2A9 https://ghr.nlm.nih.gov/gene/SLC2A9 familial renal hypouricaemia db key 2015-01 2017-12-29
individuals have been described in the scientific literature. This condition is related-gene gene-symbol ghr-page familial renal hypouricemia GTR C0473219
thought to be most prevalent in Asian countries such as Japan and South Korea, SLC22A12 https://ghr.nlm.nih.gov/gene/SLC22A12 hereditary renal hypouricemia db key
although affected individuals have been found in Europe. Renal hypouricemia is RHUC GTR C2677549
likely underdiagnosed because it does not cause any symptoms in many affected db key
individuals. MeSH D015499
html:p db key
OMIM 220150
db key
OMIM 612076
db key
Orphanet 94088
html:p db key
SNOMED CT 236478009
related-gene-list
Renal tubular acidosis with deafness https://ghr.nlm.nih.gov/condition/renal-tubular-acidosis-with-deafness Renal tubular acidosis with deafness is a rare disorder; its prevalence is html:p autosomal recessive ATP6V0A4 https://ghr.nlm.nih.gov/gene/ATP6V0A4 AR dRTA with deafness db key 2014-03 2017-12-29
unknown. related-gene gene-symbol ghr-page AR dRTA with hearing loss GTR C0403554
ATP6V1B1 https://ghr.nlm.nih.gov/gene/ATP6V1B1 autosomal recessive distal renal tubular acidosis with deafness db key
renal tubular acidosis type 1b MeSH D000141
renal tubular acidosis with progressive nerve deafness db key
renal tubular acidosis, autosomal recessive, with progressive nerve deafness OMIM 267300
renal tubular acidosis, distal, with progressive nerve deafness db key
RTA with progressive nerve deafness Orphanet 93611
db key
SNOMED CT 236532003
html:p
html:p
related-gene-list
Renal tubular dysgenesis https://ghr.nlm.nih.gov/condition/renal-tubular-dysgenesis Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown. html:p autosomal recessive ACE https://ghr.nlm.nih.gov/gene/ACE Allanson Pantzar McLeod syndrome db key 2013-05 2017-12-29
related-gene gene-symbol ghr-page primitive renal tubule syndrome GTR C0266313
AGT https://ghr.nlm.nih.gov/gene/AGT db key
related-gene gene-symbol ghr-page MeSH D007674
AGTR1 https://ghr.nlm.nih.gov/gene/AGTR1 db key
related-gene gene-symbol ghr-page OMIM 267430
html:p REN https://ghr.nlm.nih.gov/gene/REN db key
Orphanet 3033
db key
SNOMED CT 702397002
html:p
html:p
related-gene-list
Renpenning syndrome https://ghr.nlm.nih.gov/condition/renpenning-syndrome Renpenning syndrome is a rare disorder; its prevalence is unknown. More html:p X-linked recessive PQBP1 https://ghr.nlm.nih.gov/gene/PQBP1 Golabi-Ito-Hall syndrome db key 2012-06 2017-12-29
than 60 affected individuals in at least 15 families have been identified. Hamel cerebropalatocardiac syndrome GTR C0796135
Porteous syndrome db key
Sutherland-Haan syndrome MeSH D038901
X-linked deficit due to PQBP1 mutations db key
X-linked deficit, Renpenning type OMIM 309500
db key
Orphanet 3242
db key
SNOMED CT 699669001
html:p
html:p
related-gene-list
Restless legs syndrome https://ghr.nlm.nih.gov/condition/restless-legs-syndrome Restless legs syndrome is one of the most common sleep and movement html:p autosomal dominant BTBD9 https://ghr.nlm.nih.gov/gene/BTBD9 Ekbom syndrome db key 2013-10 2017-12-29
disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent memo related-gene gene-symbol ghr-page Ekbom's syndrome GTR C1837285
of children in the United States. For unknown reasons, the disorder affects pattern unknown MAP2K5 https://ghr.nlm.nih.gov/gene/MAP2K5 restless leg syndrome db key
women more often than men. The prevalence of restless legs syndrome increases related-gene gene-symbol ghr-page RLS GTR C1864874
with age. MEIS1 https://ghr.nlm.nih.gov/gene/MEIS1 WED db key
related-gene gene-symbol ghr-page Willis-Ekbom disease GTR C1864875
PTPRD https://ghr.nlm.nih.gov/gene/PTPRD db key
related-gene gene-symbol ghr-page GTR C1876177
html:p SKOR1 https://ghr.nlm.nih.gov/gene/SKOR1 db key
related-gene gene-symbol ghr-page GTR C1970010
TOX3 https://ghr.nlm.nih.gov/gene/TOX3 db key
GTR C1970020
db key
html:p GTR C2748506
db key
GTR C3554664
db key
ICD-10-CM G25.81
db key
MeSH D012148
html:p db key
OMIM 102300
db key
OMIM 608831
html:p db key
OMIM 610438
db key
OMIM 610439
db key
OMIM 611185
db key
OMIM 611242
db key
OMIM 612853
db key
OMIM 615197
db key
related-gene-list SNOMED CT 32914008
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis https://ghr.nlm.nih.gov/condition/retinal-arterial-macroaneurysm-with-supravalvu RAMSVPS is a rare disorder. Only a small number of affected individuals and html:p autosomal recessive IGFBP7 https://ghr.nlm.nih.gov/gene/IGFBP7 familial retinal arterial macroaneurysm db key 2015-08 2017-12-29
lar-pulmonic-stenosis families, all from Saudi Arabia, have been described in the medical literature. FRAM GTR C3280205
RAMSVPS db key
html:p ICD-10-CM H35.09
db key
MeSH D015785
db key
OMIM 614224
html:p
related-gene-list
Retinitis pigmentosa https://ghr.nlm.nih.gov/condition/retinitis-pigmentosa Retinitis pigmentosa is one of the most common inherited diseases of the html:p autosomal dominant ABCA4 https://ghr.nlm.nih.gov/gene/ABCA4 pigmentary retinopathy db key 2010-10 2017-12-29
retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 memo related-gene gene-symbol ghr-page rod-cone dystrophy GTR C0035334
people in the United States and Europe. autosomal recessive BEST1 https://ghr.nlm.nih.gov/gene/BEST1 RP db key
memo related-gene gene-symbol ghr-page tapetoretinal degeneration GeneReviews rp-overview
X-linked recessive C2orf71 https://ghr.nlm.nih.gov/gene/C2orf71 db key
html:p related-gene gene-symbol ghr-page ICD-10-CM H35.52
CA4 https://ghr.nlm.nih.gov/gene/CA4 db key
related-gene gene-symbol ghr-page MeSH D012174
CERKL https://ghr.nlm.nih.gov/gene/CERKL db key
related-gene gene-symbol ghr-page OMIM 268000
CLRN1 https://ghr.nlm.nih.gov/gene/CLRN1 db key
related-gene gene-symbol ghr-page Orphanet 791
CNGA1 https://ghr.nlm.nih.gov/gene/CNGA1 db key
html:p related-gene gene-symbol ghr-page SNOMED CT 28835009
CNGB1 https://ghr.nlm.nih.gov/gene/CNGB1 db key
related-gene gene-symbol ghr-page SNOMED CT 80328002
CRB1 https://ghr.nlm.nih.gov/gene/CRB1
related-gene gene-symbol ghr-page
html:p CRX https://ghr.nlm.nih.gov/gene/CRX
related-gene gene-symbol ghr-page
EYS https://ghr.nlm.nih.gov/gene/EYS
related-gene gene-symbol ghr-page
FAM161A https://ghr.nlm.nih.gov/gene/FAM161A
related-gene gene-symbol ghr-page
FSCN2 https://ghr.nlm.nih.gov/gene/FSCN2
related-gene gene-symbol ghr-page
GUCA1B https://ghr.nlm.nih.gov/gene/GUCA1B
related-gene gene-symbol ghr-page
IDH3B https://ghr.nlm.nih.gov/gene/IDH3B
related-gene gene-symbol ghr-page
IMPDH1 https://ghr.nlm.nih.gov/gene/IMPDH1
related-gene gene-symbol ghr-page
IMPG2 https://ghr.nlm.nih.gov/gene/IMPG2
related-gene gene-symbol ghr-page
KLHL7 https://ghr.nlm.nih.gov/gene/KLHL7
related-gene gene-symbol ghr-page
LRAT https://ghr.nlm.nih.gov/gene/LRAT
related-gene gene-symbol ghr-page
MERTK https://ghr.nlm.nih.gov/gene/MERTK
related-gene gene-symbol ghr-page
MT-TS2 https://ghr.nlm.nih.gov/gene/MT-TS2
related-gene gene-symbol ghr-page
NR2E3 https://ghr.nlm.nih.gov/gene/NR2E3
related-gene gene-symbol ghr-page
NRL https://ghr.nlm.nih.gov/gene/NRL
related-gene gene-symbol ghr-page
PDE6A https://ghr.nlm.nih.gov/gene/PDE6A
related-gene gene-symbol ghr-page
PDE6B https://ghr.nlm.nih.gov/gene/PDE6B
related-gene gene-symbol ghr-page
PDE6G https://ghr.nlm.nih.gov/gene/PDE6G
related-gene gene-symbol ghr-page
PRCD https://ghr.nlm.nih.gov/gene/PRCD
related-gene gene-symbol ghr-page
PROM1 https://ghr.nlm.nih.gov/gene/PROM1
related-gene gene-symbol ghr-page
PRPF3 https://ghr.nlm.nih.gov/gene/PRPF3
related-gene gene-symbol ghr-page
PRPF8 https://ghr.nlm.nih.gov/gene/PRPF8
related-gene gene-symbol ghr-page
PRPF31 https://ghr.nlm.nih.gov/gene/PRPF31
related-gene gene-symbol ghr-page
PRPH2 https://ghr.nlm.nih.gov/gene/PRPH2
related-gene gene-symbol ghr-page
RBP3 https://ghr.nlm.nih.gov/gene/RBP3
related-gene gene-symbol ghr-page
RDH12 https://ghr.nlm.nih.gov/gene/RDH12
related-gene gene-symbol ghr-page
RGR https://ghr.nlm.nih.gov/gene/RGR
related-gene gene-symbol ghr-page
RHO https://ghr.nlm.nih.gov/gene/RHO
related-gene gene-symbol ghr-page
RLBP1 https://ghr.nlm.nih.gov/gene/RLBP1
related-gene gene-symbol ghr-page
ROM1 https://ghr.nlm.nih.gov/gene/ROM1
related-gene gene-symbol ghr-page
RP1 https://ghr.nlm.nih.gov/gene/RP1
related-gene gene-symbol ghr-page
RP2 https://ghr.nlm.nih.gov/gene/RP2
related-gene gene-symbol ghr-page
RP9 https://ghr.nlm.nih.gov/gene/RP9
related-gene gene-symbol ghr-page
RPE65 https://ghr.nlm.nih.gov/gene/RPE65
related-gene gene-symbol ghr-page
RPGR https://ghr.nlm.nih.gov/gene/RPGR
related-gene gene-symbol ghr-page
SAG https://ghr.nlm.nih.gov/gene/SAG
related-gene gene-symbol ghr-page
SEMA4A https://ghr.nlm.nih.gov/gene/SEMA4A
related-gene gene-symbol ghr-page
SNRNP200 https://ghr.nlm.nih.gov/gene/SNRNP200
related-gene gene-symbol ghr-page
SPATA7 https://ghr.nlm.nih.gov/gene/SPATA7
related-gene gene-symbol ghr-page
TOPORS https://ghr.nlm.nih.gov/gene/TOPORS
related-gene gene-symbol ghr-page
TTC8 https://ghr.nlm.nih.gov/gene/TTC8
related-gene gene-symbol ghr-page
TULP1 https://ghr.nlm.nih.gov/gene/TULP1
related-gene gene-symbol ghr-page
USH2A https://ghr.nlm.nih.gov/gene/USH2A
related-gene gene-symbol ghr-page
WDR19 https://ghr.nlm.nih.gov/gene/WDR19
related-gene gene-symbol ghr-page
ZNF513 https://ghr.nlm.nih.gov/gene/ZNF513
related-gene-list
Retinoblastoma https://ghr.nlm.nih.gov/condition/retinoblastoma Retinoblastoma is diagnosed in 250 to 350 children per year in the United html:p autosomal dominant MYCN https://ghr.nlm.nih.gov/gene/MYCN Glioma, retinal db key 2017-12 2017-12-29
States. It accounts for about 4 percent of all cancers in children younger than related-gene gene-symbol ghr-page RB GTR C0035335
15 years. RB1 https://ghr.nlm.nih.gov/gene/RB1 db key
related-chromosome name ghr-page GeneReviews retinoblastoma
html:p 13 https://ghr.nlm.nih.gov/chromosome/13 db key
ICD-10-CM C69.2
db key
ICD-10-CM C69.20
db key
ICD-10-CM C69.21
db key
ICD-10-CM C69.22
db key
html:p MeSH D012175
db key
OMIM 180200
html:p db key
Orphanet 790
db key
SNOMED CT 370967009
synonym-list db-key-list
Retroperitoneal fibrosis https://ghr.nlm.nih.gov/condition/retroperitoneal-fibrosis Retroperitoneal fibrosis occurs in 1 in 200,000 to 500,000 people per year. html:p not inherited synonym Ormond's disease key 2017-12-29
The disorder occurs approximately twice as often in men as it does in women, memo db-key C0494949
but the reason for this difference is unclear. pattern unknown key
db-key D012185
key
html:p db-key 228800
key
db-key 49041
key
49120005
html:p
related-gene-list
Rett syndrome https://ghr.nlm.nih.gov/condition/rett-syndrome This condition affects an estimated 1 in 8,500 females. html:p X-linked dominant MECP2 https://ghr.nlm.nih.gov/gene/MECP2 autism-dementia-ataxia-loss of purposeful hand use syndrome db key 2013-12 2017-12-29
Rett disorder GTR C0035372
Rett's disorder db key
Rett's syndrome GeneReviews rett
RTS db key
RTT ICD-10-CM F84.2
db key
MeSH D015518
db key
OMIM 312750
html:p db key
Orphanet 778
db key
related-gene-list SNOMED CT 68618008
Rheumatoid arthritis https://ghr.nlm.nih.gov/condition/rheumatoid-arthritis Rheumatoid arthritis affects about 1.3 million adults in the United States. html:p pattern unknown AFF3 https://ghr.nlm.nih.gov/gene/AFF3 arthritis, rheumatoid db key 2013-09 2017-12-29
Worldwide, it is estimated to occur in up to 1 percent of the population. The related-gene gene-symbol ghr-page RA GTR C0003873
disease is two to three times more common in women than in men, which may be ARID5B https://ghr.nlm.nih.gov/gene/ARID5B db key
related to hormonal factors. related-gene gene-symbol ghr-page ICD-10-CM M05
BLK https://ghr.nlm.nih.gov/gene/BLK db key
related-gene gene-symbol ghr-page ICD-10-CM M05.0
C5 https://ghr.nlm.nih.gov/gene/C5 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.00
CCL21 https://ghr.nlm.nih.gov/gene/CCL21 db key
html:p related-gene gene-symbol ghr-page ICD-10-CM M05.01
CCR6 https://ghr.nlm.nih.gov/gene/CCR6 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.1
CD2 https://ghr.nlm.nih.gov/gene/CD2 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.02
CD5 https://ghr.nlm.nih.gov/gene/CD5 db key
html:p related-gene gene-symbol ghr-page ICD-10-CM M05.2
CD28 https://ghr.nlm.nih.gov/gene/CD28 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.03
CD40 https://ghr.nlm.nih.gov/gene/CD40 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.3
CD58 https://ghr.nlm.nih.gov/gene/CD58 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.04
CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.4
FCGR2A https://ghr.nlm.nih.gov/gene/FCGR2A db key
related-gene gene-symbol ghr-page ICD-10-CM M05.05
FCGR2B https://ghr.nlm.nih.gov/gene/FCGR2B db key
related-gene gene-symbol ghr-page ICD-10-CM M05.5
GATA3 https://ghr.nlm.nih.gov/gene/GATA3 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.06
HLA-B https://ghr.nlm.nih.gov/gene/HLA-B db key
related-gene gene-symbol ghr-page ICD-10-CM M05.6
HLA-DPB1 https://ghr.nlm.nih.gov/gene/HLA-DPB1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.07
HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.7
IKZF3 https://ghr.nlm.nih.gov/gene/IKZF3 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.8
IL2 https://ghr.nlm.nih.gov/gene/IL2 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.09
IL2RA https://ghr.nlm.nih.gov/gene/IL2RA db key
related-gene gene-symbol ghr-page ICD-10-CM M05.9
IL2RB https://ghr.nlm.nih.gov/gene/IL2RB db key
related-gene gene-symbol ghr-page ICD-10-CM M05.10
IL6R https://ghr.nlm.nih.gov/gene/IL6R db key
related-gene gene-symbol ghr-page ICD-10-CM M05.011
IL6ST https://ghr.nlm.nih.gov/gene/IL6ST db key
related-gene gene-symbol ghr-page ICD-10-CM M05.11
IL21 https://ghr.nlm.nih.gov/gene/IL21 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.012
IRAK1 https://ghr.nlm.nih.gov/gene/IRAK1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.12
IRF5 https://ghr.nlm.nih.gov/gene/IRF5 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.13
IRF8 https://ghr.nlm.nih.gov/gene/IRF8 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.14
KIF5A https://ghr.nlm.nih.gov/gene/KIF5A db key
related-gene gene-symbol ghr-page ICD-10-CM M05.15
NFKBIL1 https://ghr.nlm.nih.gov/gene/NFKBIL1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.16
PADI4 https://ghr.nlm.nih.gov/gene/PADI4 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.17
PIP4K2C https://ghr.nlm.nih.gov/gene/PIP4K2C db key
related-gene gene-symbol ghr-page ICD-10-CM M05.019
POU3F1 https://ghr.nlm.nih.gov/gene/POU3F1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.19
PRDM1 https://ghr.nlm.nih.gov/gene/PRDM1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.20
PRKCQ https://ghr.nlm.nih.gov/gene/PRKCQ db key
related-gene gene-symbol ghr-page ICD-10-CM M05.021
PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.21
PTPRC https://ghr.nlm.nih.gov/gene/PTPRC db key
related-gene gene-symbol ghr-page ICD-10-CM M05.022
PXK https://ghr.nlm.nih.gov/gene/PXK db key
related-gene gene-symbol ghr-page ICD-10-CM M05.22
RASGRP1 https://ghr.nlm.nih.gov/gene/RASGRP1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.23
RBPJ https://ghr.nlm.nih.gov/gene/RBPJ db key
related-gene gene-symbol ghr-page ICD-10-CM M05.24
RCAN1 https://ghr.nlm.nih.gov/gene/RCAN1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.25
REL https://ghr.nlm.nih.gov/gene/REL db key
related-gene gene-symbol ghr-page ICD-10-CM M05.26
RUNX1 https://ghr.nlm.nih.gov/gene/RUNX1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.27
SPRED2 https://ghr.nlm.nih.gov/gene/SPRED2 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.029
STAT4 https://ghr.nlm.nih.gov/gene/STAT4 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.29
TAGAP https://ghr.nlm.nih.gov/gene/TAGAP db key
related-gene gene-symbol ghr-page ICD-10-CM M05.30
TLE3 https://ghr.nlm.nih.gov/gene/TLE3 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.031
TNFAIP3 https://ghr.nlm.nih.gov/gene/TNFAIP3 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.31
TNFRSF14 https://ghr.nlm.nih.gov/gene/TNFRSF14 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.032
TRAF1 https://ghr.nlm.nih.gov/gene/TRAF1 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.32
TRAF6 https://ghr.nlm.nih.gov/gene/TRAF6 db key
related-gene gene-symbol ghr-page ICD-10-CM M05.33
TYK2 https://ghr.nlm.nih.gov/gene/TYK2 db key
ICD-10-CM M05.34
db key
ICD-10-CM M05.35
db key
ICD-10-CM M05.36
db key
ICD-10-CM M05.37
db key
ICD-10-CM M05.039
db key
ICD-10-CM M05.39
db key
ICD-10-CM M05.40
db key
ICD-10-CM M05.041
db key
ICD-10-CM M05.41
db key
ICD-10-CM M05.042
db key
ICD-10-CM M05.42
db key
ICD-10-CM M05.43
db key
ICD-10-CM M05.44
db key
ICD-10-CM M05.45
db key
ICD-10-CM M05.46
db key
ICD-10-CM M05.47
db key
ICD-10-CM M05.049
db key
ICD-10-CM M05.49
db key
ICD-10-CM M05.50
db key
ICD-10-CM M05.051
db key
ICD-10-CM M05.51
db key
ICD-10-CM M05.052
db key
ICD-10-CM M05.52
db key
ICD-10-CM M05.53
db key
ICD-10-CM M05.54
db key
ICD-10-CM M05.55
db key
ICD-10-CM M05.56
db key
ICD-10-CM M05.57
db key
ICD-10-CM M05.059
db key
ICD-10-CM M05.59
db key
ICD-10-CM M05.60
db key
ICD-10-CM M05.061
db key
ICD-10-CM M05.61
db key
ICD-10-CM M05.062
db key
ICD-10-CM M05.62
db key
ICD-10-CM M05.63
db key
ICD-10-CM M05.64
db key
ICD-10-CM M05.65
db key
ICD-10-CM M05.66
db key
ICD-10-CM M05.67
db key
ICD-10-CM M05.069
db key
ICD-10-CM M05.69
db key
ICD-10-CM M05.70
db key
ICD-10-CM M05.071
db key
ICD-10-CM M05.71
db key
ICD-10-CM M05.072
db key
ICD-10-CM M05.72
db key
ICD-10-CM M05.73
db key
ICD-10-CM M05.74
db key
ICD-10-CM M05.75
db key
ICD-10-CM M05.76
db key
ICD-10-CM M05.77
db key
ICD-10-CM M05.079
db key
ICD-10-CM M05.79
db key
ICD-10-CM M05.80
db key
ICD-10-CM M05.81
db key
ICD-10-CM M05.82
db key
ICD-10-CM M05.83
db key
ICD-10-CM M05.84
db key
ICD-10-CM M05.85
db key
ICD-10-CM M05.86
db key
ICD-10-CM M05.87
db key
ICD-10-CM M05.89
db key
ICD-10-CM M05.111
db key
ICD-10-CM M05.112
db key
ICD-10-CM M05.119
db key
ICD-10-CM M05.121
db key
ICD-10-CM M05.122
db key
ICD-10-CM M05.129
db key
ICD-10-CM M05.131
db key
ICD-10-CM M05.132
db key
ICD-10-CM M05.139
db key
ICD-10-CM M05.141
db key
ICD-10-CM M05.142
db key
ICD-10-CM M05.149
db key
ICD-10-CM M05.151
db key
ICD-10-CM M05.152
db key
ICD-10-CM M05.159
db key
ICD-10-CM M05.161
db key
ICD-10-CM M05.162
db key
ICD-10-CM M05.169
db key
ICD-10-CM M05.171
db key
ICD-10-CM M05.172
db key
ICD-10-CM M05.179
db key
ICD-10-CM M05.211
db key
ICD-10-CM M05.212
db key
ICD-10-CM M05.219
db key
ICD-10-CM M05.221
db key
ICD-10-CM M05.222
db key
ICD-10-CM M05.229
db key
ICD-10-CM M05.231
db key
ICD-10-CM M05.232
db key
ICD-10-CM M05.239
db key
ICD-10-CM M05.241
db key
ICD-10-CM M05.242
db key
ICD-10-CM M05.249
db key
ICD-10-CM M05.251
db key
ICD-10-CM M05.252
db key
ICD-10-CM M05.259
db key
ICD-10-CM M05.261
db key
ICD-10-CM M05.262
db key
ICD-10-CM M05.269
db key
ICD-10-CM M05.271
db key
ICD-10-CM M05.272
db key
ICD-10-CM M05.279
db key
ICD-10-CM M05.311
db key
ICD-10-CM M05.312
db key
ICD-10-CM M05.319
db key
ICD-10-CM M05.321
db key
ICD-10-CM M05.322
db key
ICD-10-CM M05.329
db key
ICD-10-CM M05.331
db key
ICD-10-CM M05.332
db key
ICD-10-CM M05.339
db key
ICD-10-CM M05.341
db key
ICD-10-CM M05.342
db key
ICD-10-CM M05.349
db key
ICD-10-CM M05.351
db key
ICD-10-CM M05.352
db key
ICD-10-CM M05.359
db key
ICD-10-CM M05.361
db key
ICD-10-CM M05.362
db key
ICD-10-CM M05.369
db key
ICD-10-CM M05.371
db key
ICD-10-CM M05.372
db key
ICD-10-CM M05.379
db key
ICD-10-CM M05.411
db key
ICD-10-CM M05.412
db key
ICD-10-CM M05.419
db key
ICD-10-CM M05.421
db key
ICD-10-CM M05.422
db key
ICD-10-CM M05.429
db key
ICD-10-CM M05.431
db key
ICD-10-CM M05.432
db key
ICD-10-CM M05.439
db key
ICD-10-CM M05.441
db key
ICD-10-CM M05.442
db key
ICD-10-CM M05.449
db key
ICD-10-CM M05.451
db key
ICD-10-CM M05.452
db key
ICD-10-CM M05.459
db key
ICD-10-CM M05.461
db key
ICD-10-CM M05.462
db key
ICD-10-CM M05.469
db key
ICD-10-CM M05.471
db key
ICD-10-CM M05.472
db key
ICD-10-CM M05.479
db key
ICD-10-CM M05.511
db key
ICD-10-CM M05.512
db key
ICD-10-CM M05.519
db key
ICD-10-CM M05.521
db key
ICD-10-CM M05.522
db key
ICD-10-CM M05.529
db key
ICD-10-CM M05.531
db key
ICD-10-CM M05.532
db key
ICD-10-CM M05.539
db key
ICD-10-CM M05.541
db key
ICD-10-CM M05.542
db key
ICD-10-CM M05.549
db key
ICD-10-CM M05.551
db key
ICD-10-CM M05.552
db key
ICD-10-CM M05.559
db key
ICD-10-CM M05.561
db key
ICD-10-CM M05.562
db key
ICD-10-CM M05.569
db key
ICD-10-CM M05.571
db key
ICD-10-CM M05.572
db key
ICD-10-CM M05.579
db key
ICD-10-CM M05.611
db key
ICD-10-CM M05.612
db key
ICD-10-CM M05.619
db key
ICD-10-CM M05.621
db key
ICD-10-CM M05.622
db key
ICD-10-CM M05.629
db key
ICD-10-CM M05.631
db key
ICD-10-CM M05.632
db key
ICD-10-CM M05.639
db key
ICD-10-CM M05.641
db key
ICD-10-CM M05.642
db key
ICD-10-CM M05.649
db key
ICD-10-CM M05.651
db key
ICD-10-CM M05.652
db key
ICD-10-CM M05.659
db key
ICD-10-CM M05.661
db key
ICD-10-CM M05.662
db key
ICD-10-CM M05.669
db key
ICD-10-CM M05.671
db key
ICD-10-CM M05.672
db key
ICD-10-CM M05.679
db key
ICD-10-CM M05.711
db key
ICD-10-CM M05.712
db key
ICD-10-CM M05.719
db key
ICD-10-CM M05.721
db key
ICD-10-CM M05.722
db key
ICD-10-CM M05.729
db key
ICD-10-CM M05.731
db key
ICD-10-CM M05.732
db key
ICD-10-CM M05.739
db key
ICD-10-CM M05.741
db key
ICD-10-CM M05.742
db key
ICD-10-CM M05.749
db key
ICD-10-CM M05.751
db key
ICD-10-CM M05.752
db key
ICD-10-CM M05.759
db key
ICD-10-CM M05.761
db key
ICD-10-CM M05.762
db key
ICD-10-CM M05.769
db key
ICD-10-CM M05.771
db key
ICD-10-CM M05.772
db key
ICD-10-CM M05.779
db key
ICD-10-CM M05.811
db key
ICD-10-CM M05.812
db key
ICD-10-CM M05.819
db key
ICD-10-CM M05.821
db key
ICD-10-CM M05.822
db key
ICD-10-CM M05.829
db key
ICD-10-CM M05.831
db key
ICD-10-CM M05.832
db key
ICD-10-CM M05.839
db key
ICD-10-CM M05.841
db key
ICD-10-CM M05.842
db key
ICD-10-CM M05.849
db key
ICD-10-CM M05.851
db key
ICD-10-CM M05.852
db key
ICD-10-CM M05.859
db key
ICD-10-CM M05.861
db key
ICD-10-CM M05.862
db key
ICD-10-CM M05.869
db key
ICD-10-CM M05.871
db key
ICD-10-CM M05.872
db key
ICD-10-CM M05.879
db key
ICD-10-CM M06
db key
ICD-10-CM M06.0
db key
ICD-10-CM M06.00
db key
ICD-10-CM M06.01
db key
ICD-10-CM M06.02
db key
ICD-10-CM M06.03
db key
ICD-10-CM M06.04
db key
ICD-10-CM M06.05
db key
ICD-10-CM M06.06
db key
ICD-10-CM M06.07
db key
ICD-10-CM M06.08
db key
ICD-10-CM M06.8
db key
ICD-10-CM M06.09
db key
ICD-10-CM M06.9
db key
ICD-10-CM M06.011
db key
ICD-10-CM M06.012
db key
ICD-10-CM M06.019
db key
ICD-10-CM M06.021
db key
ICD-10-CM M06.022
db key
ICD-10-CM M06.029
db key
ICD-10-CM M06.031
db key
ICD-10-CM M06.032
db key
ICD-10-CM M06.039
db key
ICD-10-CM M06.041
db key
ICD-10-CM M06.042
db key
ICD-10-CM M06.049
db key
ICD-10-CM M06.051
db key
ICD-10-CM M06.052
db key
ICD-10-CM M06.059
db key
ICD-10-CM M06.061
db key
ICD-10-CM M06.062
db key
ICD-10-CM M06.069
db key
ICD-10-CM M06.071
db key
ICD-10-CM M06.072
db key
ICD-10-CM M06.079
db key
ICD-10-CM M06.80
db key
ICD-10-CM M06.81
db key
ICD-10-CM M06.82
db key
ICD-10-CM M06.83
db key
ICD-10-CM M06.84
db key
ICD-10-CM M06.85
db key
ICD-10-CM M06.86
db key
ICD-10-CM M06.87
db key
ICD-10-CM M06.88
db key
ICD-10-CM M06.89
db key
ICD-10-CM M06.811
db key
ICD-10-CM M06.812
db key
ICD-10-CM M06.819
db key
ICD-10-CM M06.821
db key
ICD-10-CM M06.822
db key
ICD-10-CM M06.829
db key
ICD-10-CM M06.831
db key
ICD-10-CM M06.832
db key
ICD-10-CM M06.839
db key
ICD-10-CM M06.841
db key
ICD-10-CM M06.842
db key
ICD-10-CM M06.849
db key
ICD-10-CM M06.851
db key
ICD-10-CM M06.852
db key
ICD-10-CM M06.859
db key
ICD-10-CM M06.861
db key
ICD-10-CM M06.862
db key
ICD-10-CM M06.869
db key
ICD-10-CM M06.871
db key
ICD-10-CM M06.872
db key
ICD-10-CM M06.879
db key
ICD-10-CM M08.0
db key
ICD-10-CM M08.00
db key
ICD-10-CM M08.01
db key
ICD-10-CM M08.02
db key
ICD-10-CM M08.03
db key
ICD-10-CM M08.04
db key
ICD-10-CM M08.05
db key
ICD-10-CM M08.06
db key
ICD-10-CM M08.07
db key
ICD-10-CM M08.08
db key
ICD-10-CM M08.09
db key
ICD-10-CM M08.011
db key
ICD-10-CM M08.012
db key
ICD-10-CM M08.019
db key
ICD-10-CM M08.021
db key
ICD-10-CM M08.022
db key
ICD-10-CM M08.029
db key
ICD-10-CM M08.031
db key
ICD-10-CM M08.032
db key
ICD-10-CM M08.039
db key
ICD-10-CM M08.041
db key
ICD-10-CM M08.042
db key
ICD-10-CM M08.049
db key
ICD-10-CM M08.051
db key
ICD-10-CM M08.052
db key
ICD-10-CM M08.059
db key
ICD-10-CM M08.061
db key
ICD-10-CM M08.062
db key
ICD-10-CM M08.069
db key
ICD-10-CM M08.071
db key
ICD-10-CM M08.072
db key
ICD-10-CM M08.079
db key
MeSH D001172
db key
OMIM 180300
db key
Orphanet 284130
db key
related-gene-list SNOMED CT 69896004
Rhizomelic chondrodysplasia punctata https://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata Rhizomelic chondrodysplasia punctata affects fewer than 1 in 100,000 people html:p autosomal recessive AGPS https://ghr.nlm.nih.gov/gene/AGPS chondrodysplasia punctata, rhizomelic db key 2010-07 2017-12-29
worldwide. RCDP1 is more common than RCDP2 or RCDP3. related-gene gene-symbol ghr-page RCDP GTR C1838612
GNPAT https://ghr.nlm.nih.gov/gene/GNPAT RCP db key
related-gene gene-symbol ghr-page GTR C1857242
html:p PEX7 https://ghr.nlm.nih.gov/gene/PEX7 db key
GTR C1859133
db key
GeneReviews rcdp
db key
ICD-10-CM E71.540
html:p db key
MeSH D018902
db key
OMIM 215100
db key
OMIM 222765
html:p db key
OMIM 600121
db key
Orphanet 177
db key
SNOMED CT 56692003
html:p
related-gene-list
Riboflavin transporter deficiency neuronopathy https://ghr.nlm.nih.gov/condition/riboflavin-transporter-deficiency-neuronopathy Riboflavin transporter deficiency neuronopathy is a rare condition. html:p autosomal recessive SLC52A2 https://ghr.nlm.nih.gov/gene/SLC52A2 Brown-Vialetto-Van Laere syndrome db key 2016-01 2017-12-29
Approximately 100 cases have been reported in the scientific literature. related-gene gene-symbol ghr-page BVVLS GTR C0796274
SLC52A3 https://ghr.nlm.nih.gov/gene/SLC52A3 Fazio-Londe disease db key
Fazio-Londe syndrome GeneReviews riboflavin-tn
html:p pontobulbar palsy with deafness db key
progressive bulbar palsy with sensorineural deafness MeSH D010244
riboflavin transporter deficiency db key
OMIM 211530
db key
Orphanet 97229
db key
SNOMED CT 699866005
html:p
html:p
html:p
related-gene-list
Ring chromosome 14 syndrome https://ghr.nlm.nih.gov/condition/ring-chromosome-14-syndrome Ring chromosome 14 syndrome appears to be a rare condition, although its html:p not inherited 14 https://ghr.nlm.nih.gov/chromosome/14 ring 14 db key 2015-10 2017-12-29
prevalence is unknown. More than 50 affected individuals have been reported in ring 14 syndrome GTR C2930916
the medical literature. ring chromosome 14 db key
MeSH D012303
db key
Orphanet 1440
db key
html:p SNOMED CT 702345009
related-gene-list
Ring chromosome 20 syndrome https://ghr.nlm.nih.gov/condition/ring-chromosome-20-syndrome Ring chromosome 20 syndrome appears to be a rare condition, although its html:p not inherited 20 https://ghr.nlm.nih.gov/chromosome/20 r(20) syndrome db key 2009-05 2017-12-29
prevalence is unknown. More than 60 affected individuals have been reported in ring 20 syndrome GTR C0265482
the medical literature. ring chromosome 20 db key
ring chromosome 20 syndrome MeSH D012303
db key
Orphanet 1444
db key
SNOMED CT 23686004
html:p
related-gene-list
Rippling muscle disease https://ghr.nlm.nih.gov/condition/rippling-muscle-disease The prevalence of rippling muscle disease is unknown. html:p autosomal dominant CAV3 https://ghr.nlm.nih.gov/gene/CAV3 rippling muscle syndrome db key 2014-05 2017-12-29
memo RMD GTR C1853698
autosomal recessive db key
GeneReviews cav
db key
MeSH D020967
db key
OMIM 600332
html:p db key
OMIM 606072
db key
SNOMED CT 709281006
html:p
related-gene-list
RNAse T2-deficient leukoencephalopathy https://ghr.nlm.nih.gov/condition/rnase-t2-deficient-leukoencephalopathy The prevalence of RNAse T2-deficient leukoencephalopathy is unknown. About html:p autosomal recessive RNASET2 https://ghr.nlm.nih.gov/gene/RNASET2 cystic leukoencephalopathy without megalencephaly db key 2016-11 2017-12-29
50 people with the signs and symptoms of this disorder have been described in LBATC GTR C2751843
the medical literature. However, only about a quarter of these individuals have leukoencephalopathy with bilateral anterior temporal lobe cysts db key
been confirmed to have the same genetic change that causes RNAse T2-deficient RNASET2-deficient cystic leukoencephalopathy GeneReviews leukodys-ov
leukoencephalopathy. Researchers suggest that additional genetic changes or db key
other causes may also result in the same pattern of signs and symptoms MeSH D020279
(phenotype). db key
OMIM 612951
db key
Orphanet 85136
db key
SNOMED CT 720825005
html:p
related-gene-list
Roberts syndrome https://ghr.nlm.nih.gov/condition/roberts-syndrome Roberts syndrome is a rare disorder; approximately 150 affected individuals html:p autosomal recessive ESCO2 https://ghr.nlm.nih.gov/gene/ESCO2 Appelt-Gerken-Lenz syndrome db key 2009-01 2017-12-29
have been reported. Hypomelia hypotrichosis facial hemangioma syndrome GTR C0392475
Pseudothalidomide syndrome db key
RBS GeneReviews rbs
html:p Roberts-SC phocomelia syndrome db key
SC phocomelia syndrome MeSH D000015
SC pseudothalidomide syndrome db key
SC syndrome OMIM 268300
tetraphocomelia-cleft palate syndrome db key
OMIM 269000
db key
Orphanet 3103
html:p db key
SNOMED CT 48718006
html:p
related-gene-list
Robinow syndrome https://ghr.nlm.nih.gov/condition/robinow-syndrome Both the autosomal recessive and autosomal dominant forms of Robinow html:p autosomal dominant DVL1 https://ghr.nlm.nih.gov/gene/DVL1 acral dysostosis with facial and db key 2015-09 2017-12-29
syndrome are rare.Fewer than 200 people with autosomal recessive Robinow memo related-gene gene-symbol ghr-page fetal face syndrome GTR C0265205
syndrome have been described in the medical literature. This form of the autosomal recessive ROR2 https://ghr.nlm.nih.gov/gene/ROR2 mesomelic dwarfism-small genitalia syndrome db key
condition has been identified in families from several countries, including related-gene gene-symbol ghr-page Robinow dwarfism GTR C1849334
Turkey, Oman, Pakistan, and Brazil.Autosomal dominant Robinow syndrome has been WNT5A https://ghr.nlm.nih.gov/gene/WNT5A Robinow-Silverman-Smith syndrome db key
diagnosed in fewer than 50 families; about 10 of these families have had the html:p Robinow-Silverman syndrome GTR C4225164
osteosclerotic form. Robinow's syndrome db key
GTR C4225363
db key
GeneReviews rob
db key
GeneReviews rob-ad
db key
MeSH D000015
db key
OMIM 180700
db key
OMIM 268310
db key
html:p OMIM 616331
db key
OMIM 616894
db key
Orphanet 1507
db key
Orphanet 3107
db key
Orphanet 97360
db key
related-gene-list SNOMED CT 76520005
Romano-Ward syndrome https://ghr.nlm.nih.gov/condition/romano-ward-syndrome Romano-Ward syndrome is the most common form of inherited long QT syndrome, html:p autosomal dominant AKAP9 https://ghr.nlm.nih.gov/gene/AKAP9 RWS db key 2017-05 2017-12-29
which affects an estimated 1 in 2,000 people worldwide. Long QT syndrome may related-gene gene-symbol ghr-page Ward-Romano Syndrome GTR C0035828
actually be more common than this estimate, however, because some people never CALM1 https://ghr.nlm.nih.gov/gene/CALM1 WRS db key
experience any symptoms associated with arrhythmia and therefore may not be related-gene gene-symbol ghr-page GTR C1859062
diagnosed. CALM2 https://ghr.nlm.nih.gov/gene/CALM2 db key
related-gene gene-symbol ghr-page GTR C3150943
CAV3 https://ghr.nlm.nih.gov/gene/CAV3 db key
related-gene gene-symbol ghr-page GTR CN119492
KCNH2 https://ghr.nlm.nih.gov/gene/KCNH2 db key
html:p related-gene gene-symbol ghr-page GeneReviews rws
KCNJ5 https://ghr.nlm.nih.gov/gene/KCNJ5 db key
related-gene gene-symbol ghr-page ICD-10-CM I45.81
KCNQ1 https://ghr.nlm.nih.gov/gene/KCNQ1 db key
html:p related-gene gene-symbol ghr-page MeSH D029597
SCN4B https://ghr.nlm.nih.gov/gene/SCN4B db key
related-gene gene-symbol ghr-page OMIM 192500
SCN5A https://ghr.nlm.nih.gov/gene/SCN5A db key
related-gene gene-symbol ghr-page OMIM 603830
SNTA1 https://ghr.nlm.nih.gov/gene/SNTA1 db key
OMIM 613688
db key
Orphanet 768
db key
related-gene-list SNOMED CT 20852007
Rothmund-Thomson syndrome https://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. html:p autosomal recessive RECQL4 https://ghr.nlm.nih.gov/gene/RECQL4 congenital poikiloderma db key 2013-08 2017-12-29
About 300 people with this condition have been reported worldwide in scientific poikiloderma atrophicans and cataract GTR C0032339
studies. poikiloderma congenitale db key
poikiloderma congenitale of Rothmund-Thomson GeneReviews rts
RTS db key
MeSH D011038
db key
html:p OMIM 268400
db key
Orphanet 2909
db key
SNOMED CT 69093006
html:p
html:p
related-gene-list
Rotor syndrome https://ghr.nlm.nih.gov/condition/rotor-syndrome Rotor syndrome is a rare condition, although its prevalence is unknown. html:p autosomal recessive SLCO1B1 https://ghr.nlm.nih.gov/gene/SLCO1B1 hyperbilirubinemia, Rotor type db key 2013-03 2017-12-29
related-gene gene-symbol ghr-page GTR C0220991
SLCO1B3 https://ghr.nlm.nih.gov/gene/SLCO1B3 db key
GeneReviews rotor
db key
MeSH D006933
db key
html:p OMIM 237450
db key
Orphanet 3111
db key
inheritance-pattern-list related-gene-list SNOMED CT 32891000
RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-synd RRM2B-MDS is a rare condition; the exact prevalence is unknown. At least 15 html:p ar autosomal recessive ghr-page mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal db-key db key 2016-11 2017-12-29
renal tubulopathy rome-encephalomyopathic-form-with-renal-tubulopathy cases have been reported in the medical literature. https://ghr.nlm.nih.gov/gene/RRM2B tubulopathy) GTR CN187502
MTDPS8A db-key db key
RRM2B-MDS GeneReviews rrm2b-mtddepl
db-key db key
html:p MeSH D017237
db-key db key
OMIM 612075
db-key db key
Orphanet 255235
db-key db key
Orphanet 35698
html:p
html:p
related-gene-list
Rubinstein-Taybi syndrome https://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome This condition is uncommon; it occurs in an estimated 1 in 100,000 to html:p autosomal dominant CREBBP https://ghr.nlm.nih.gov/gene/CREBBP Broad Thumb-Hallux Syndrome db key 2007-01 2017-12-29
125,000 newborns. related-gene gene-symbol ghr-page RSTS GTR C0035934
EP300 https://ghr.nlm.nih.gov/gene/EP300 RTS db key
related-chromosome name ghr-page GTR C3150941
16 https://ghr.nlm.nih.gov/chromosome/16 db key
GeneReviews rsts
db key
MeSH D012415
html:p db key
OMIM 180849
db key
OMIM 613684
db key
Orphanet 783
db key
related-gene-list SNOMED CT 45582004
Russell-Silver syndrome https://ghr.nlm.nih.gov/condition/russell-silver-syndrome The exact incidence of Russell-Silver syndrome is unknown. Worldwide html:p autosomal dominant H19 https://ghr.nlm.nih.gov/gene/H19 RSS db key 2016-09 2017-12-29
estimates range from 1 in 30,000 to 1 in 100,000 people. memo related-gene gene-symbol ghr-page Silver-Russell dwarfism GTR C0175693
autosomal recessive IGF2 https://ghr.nlm.nih.gov/gene/IGF2 Silver-Russell syndrome db key
memo related-chromosome name ghr-page SRS GeneReviews rss
X-linked dominant 7 https://ghr.nlm.nih.gov/chromosome/7 db key
related-chromosome name ghr-page MeSH D056730
11 https://ghr.nlm.nih.gov/chromosome/11 db key
OMIM 180860
db key
Orphanet 813
html:p db key
SNOMED CT 15069006
related-gene-list
SADDAN https://ghr.nlm.nih.gov/condition/saddan This disorder is very rare; it has been described in only a small number of html:p autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 achondroplasia, severe, with developmental delay and acanthosis nigricans db key 2012-10 2017-12-29
individuals worldwide. SADDAN dysplasia GTR C2674173
Severe achondroplasia with developmental delay and acanthosis nigricans db key
html:p Skeleton-skin-brain syndrome GeneReviews achondroplasia
SSB syndrome db key
MeSH D000130
db key
SNOMED CT 699870002
related-gene-list
Saethre-Chotzen syndrome https://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome Saethre-Chotzen syndrome has an estimated prevalence of 1 in 25,000 to html:p autosomal dominant TWIST1 https://ghr.nlm.nih.gov/gene/TWIST1 acrocephalosyndactyly III db key 2008-02 2017-12-29
50,000 people. related-chromosome name ghr-page Acrocephalosyndactyly, type III GTR C0175699
7 https://ghr.nlm.nih.gov/chromosome/7 Acrocephaly, Skull Asymmetry, and Mild Syndactyly db key
html:p ACS III GTR C1867146
ACS3 db key
Chotzen syndrome GeneReviews scs
dysostosis craniofacialis with hypertelorism db key
SCS MeSH D000168
db key
OMIM 101400
db key
html:p OMIM 180750
db key
Orphanet 794
db key
SNOMED CT 83015004
html:p
related-gene-list
Sandhoff disease https://ghr.nlm.nih.gov/condition/sandhoff-disease Sandhoff disease is a rare disorder; its frequency varies among html:p autosomal recessive HEXB https://ghr.nlm.nih.gov/gene/HEXB Beta-hexosaminidase-beta-subunit deficiency db key 2008-09 2017-12-29
populations. This condition appears to be more common in the Creole population GM2 gangliosidosis, type 2 GTR C0036161
of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people html:p GM2 Gangliosidosis, Type II db key
from Lebanon. Hexosaminidase A and B Deficiency Disease ICD-10-CM E75.01
Sandhoff-Jatzkewitz-Pilz disease db key
Total hexosaminidase deficiency MeSH D012497
db key
OMIM 268800
db key
Orphanet 796
db key
SNOMED CT 23849003
html:p
inheritance-pattern-list related-gene-list
SATB2-associated syndrome https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome SATB2-associated syndrome is a rare condition. Its prevalence is unknown. html:p n not inherited ghr-page 2q32 deletion syndrome db-key db key 2017-02 2017-12-29
related-chromosome https://ghr.nlm.nih.gov/gene/SATB2 2q33.1 microdeletion syndrome GTR C2676739
ghr-page chromosome 2q32-q33 deletion syndrome db-key db key
https://ghr.nlm.nih.gov/chromosome/2 Glass syndrome GeneReviews satb2-dis
SAS db-key db key
MeSH D008607
db-key db key
OMIM 612313
html:p
html:p
html:p
related-gene-list
Scalp-ear-nipple syndrome https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome The prevalence of scalp-ear-nipple syndrome is unknown. Only a small number html:p autosomal dominant KCTD1 https://ghr.nlm.nih.gov/gene/KCTD1 Finlay-Marks syndrome db key 2017-04 2017-12-29
of affected individuals have been described in the medical literature. hereditary syndrome of lumpy scalp, odd ears, and rudimentary nipples GTR C1867020
SEN syndrome db key
SENS MeSH D004476
html:p db key
OMIM 181270
db key
Orphanet 2036
html:p db key
SNOMED CT 721888002
html:p
related-gene-list
Schimke immuno-osseous dysplasia https://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia Schimke immuno-osseous dysplasia is a very rare condition. The prevalence html:p autosomal recessive SMARCAL1 https://ghr.nlm.nih.gov/gene/SMARCAL1 immunoosseous dysplasia, Schimke type db key 2008-11 2017-12-29
in North America is estimated to be one in 1 million to 3 million people. Schimke immunoosseous dysplasia GTR C0877024
SIOD db key
GeneReviews siod
db key
MeSH D007153
db key
MeSH D010009
db key
html:p OMIM 242900
db key
Orphanet 1830
db key
html:p SNOMED CT 254067002
html:p
related-gene-list
Schindler disease https://ghr.nlm.nih.gov/condition/schindler-disease Schindler disease is very rare. Only a few individuals with each type of html:p autosomal recessive NAGA https://ghr.nlm.nih.gov/gene/NAGA alpha-galactosidase B deficiency db key 2010-02 2017-12-29
the disorder have been identified. alpha-galNAc deficiency, Schindler type GTR C1836522
html:p alpha-N-acetylgalactosaminidase deficiency db key
alpha-NAGA deficiency GTR C1836544
angiokeratoma corporis diffusum-glycopeptiduria db key
GALB deficiency MeSH D016464
Kanzaki disease db key
lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum OMIM 609241
NAGA deficiency db key
neuroaxonal dystrophy, Schindler type OMIM 609242
html:p neuronal axonal dystrophy, Schindler type db key
Orphanet 3137
db key
SNOMED CT 238048001
html:p
related-gene-list
Schinzel-Giedion syndrome https://ghr.nlm.nih.gov/condition/schinzel-giedion-syndrome Schinzel-Giedion syndrome is very rare, although the exact prevalence is html:p not inherited SETBP1 https://ghr.nlm.nih.gov/gene/SETBP1 Schinzel-Giedion midface retraction syndrome db key 2012-01 2017-12-29
unknown. Schinzel Giedion syndrome GTR C1849294
db key
MeSH D000015
db key
html:p OMIM 269150
db key
Orphanet 798
db key
SNOMED CT 18899000
html:p
html:p
html:p
html:p
related-gene-list
https://ghr.nlm.nih.gov/condition/ is a common disorder that occurs all over the world. It html:p pattern unknown ABCA13 https://ghr.nlm.nih.gov/gene/ABCA13 dementia praecox db key 2016-07 2017-12-29
affects almost 1 percent of the population, with slightly more males than related-gene gene-symbol ghr-page GTR C0036341
females developing the disorder. C4A https://ghr.nlm.nih.gov/gene/C4A db key
html:p related-gene gene-symbol ghr-page ICD-10-CM F20
DGCR2 https://ghr.nlm.nih.gov/gene/DGCR2 db key
related-gene gene-symbol ghr-page MeSH D012559
DGCR8 https://ghr.nlm.nih.gov/gene/DGCR8 db key
related-gene gene-symbol ghr-page OMIM 181500
DRD2 https://ghr.nlm.nih.gov/gene/DRD2 db key
related-gene gene-symbol ghr-page Orphanet 3140
html:p MIR137 https://ghr.nlm.nih.gov/gene/MIR137 db key
related-gene gene-symbol ghr-page SNOMED CT 58214004
NOS1AP https://ghr.nlm.nih.gov/gene/NOS1AP
related-gene gene-symbol ghr-page
NRXN1 https://ghr.nlm.nih.gov/gene/NRXN1
related-gene gene-symbol ghr-page
OLIG2 https://ghr.nlm.nih.gov/gene/OLIG2
html:p related-gene gene-symbol ghr-page
RTN4R https://ghr.nlm.nih.gov/gene/RTN4R
related-gene gene-symbol ghr-page
SYN2 https://ghr.nlm.nih.gov/gene/SYN2
related-gene gene-symbol ghr-page
html:p TOP3B https://ghr.nlm.nih.gov/gene/TOP3B
related-gene gene-symbol ghr-page
YWHAE https://ghr.nlm.nih.gov/gene/YWHAE
html:p related-gene gene-symbol ghr-page
ZDHHC8 https://ghr.nlm.nih.gov/gene/ZDHHC8
related-chromosome name ghr-page
22 https://ghr.nlm.nih.gov/chromosome/22
related-gene-list
Schwannomatosis https://ghr.nlm.nih.gov/condition/schwannomatosis The incidence of schwannomatosis is unknown, although estimates in several html:p autosomal dominant LZTR1 https://ghr.nlm.nih.gov/gene/LZTR1 multiple neurilemmomas db key 2017-01 2017-12-29
populations have ranged from 1 in 40,000 to 1 in 1.7 million people. Some memo related-gene gene-symbol ghr-page multiple schwannomas GTR C1335929
researchers have suggested that schwannomatosis may be as common as pattern unknown NF2 https://ghr.nlm.nih.gov/gene/NF2 neurilemmomatosis db key
neurofibromatosis type 2, which has an incidence of 1 in 33,000 people related-gene gene-symbol ghr-page neurilemmomatosis, congenital cutaneous GTR C3810283
worldwide.Schwannomatosis accounts for only a small percentage of all schwannoma SMARCB1 https://ghr.nlm.nih.gov/gene/SMARCB1 neurinomatosis db key
tumors. Most schwannomas are isolated, meaning that an individual develops only html:p neurofibromatosis type 3 ICD-10-CM Q85.03
a single tumor. It is rarer to have multiple schwannomas, as occurs in db key
schwannomatosis. MeSH D009442
db key
MeSH D012878
db key
MeSH D017253
db key
html:p OMIM 162091
db key
OMIM 615670
db key
Orphanet 93921
db key
SNOMED CT 142071000119101
db key
SNOMED CT 254240003
related-gene-list
Schwartz-Jampel syndrome https://ghr.nlm.nih.gov/condition/schwartz-jampel-syndrome Schwartz-Jampel syndrome appears to be a rare condition. About 150 cases html:p autosomal recessive HSPG2 https://ghr.nlm.nih.gov/gene/HSPG2 chondrodystrophic myotonia db key 2016-04 2017-12-29
have been reported in the medical literature. myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial GTR C0036391
abnormalities db key
Schwartz-Jampel-Aberfeld syndrome ICD-10-CM G71.13
Schwartz-Jampel syndrome, type 1 db key
SJA syndrome MeSH D010009
SJS db key
html:p SJS1 OMIM 255800
db key
Orphanet 800
db key
SNOMED CT 29145002
html:p
html:p
inheritance-pattern-list related-gene-list
SCN8A-related with encephalopathy https://ghr.nlm.nih.gov/condition/scn8a-related--with-encephalopathy There are at least 140 individuals with SCN8A-related with html:p ad autosomal dominant ghr-page early infantile epileptic encephalopathy 13 db-key db key 2017-08 2017-12-29
encephalopathy. This condition is estimated to account for 1 percent of all https://ghr.nlm.nih.gov/gene/SCN8A EIEE13 GTR C3281191
cases of with encephalopathy. SCN8A encephalopathy db-key db key
html:p GeneReviews scn8a-ee
db-key db key
MeSH D001925
db-key db key
MeSH D004831
db-key db key
OMIM 614558
db-key db key
Orphanet 1934
html:p db-key db key
SNOMED CT 4.3E+14
html:p
related-gene-list
Seasonal affective disorder https://ghr.nlm.nih.gov/condition/seasonal-affective-disorder Seasonal affective disorder occurs in 0.5 to 3 percent of individuals in html:p pattern unknown ARNTL https://ghr.nlm.nih.gov/gene/ARNTL affective disorder, seasonal db key 2017-12 2017-12-29
the general population; it affects 10 to 20 percent of people with major related-gene gene-symbol ghr-page in a seasonal pattern MeSH D016574
disorder and about 25 percent of people with disorder.Some CLOCK https://ghr.nlm.nih.gov/gene/CLOCK ; seasonal db key
individuals have a condition known as subsyndromal seasonal affective disorder related-gene gene-symbol ghr-page major disorder with a seasonal pattern OMIM 608516
or seasonality, which is more common than seasonal affective disorder. These CRY2 https://ghr.nlm.nih.gov/gene/CRY2 SAD db key
individuals have only mild changes in mood that correspond with the changes in related-gene gene-symbol ghr-page seasonal SNOMED CT 247803002
seasons. HTR2A https://ghr.nlm.nih.gov/gene/HTR2A seasonal mood disorder
related-gene gene-symbol ghr-page
NPAS2 https://ghr.nlm.nih.gov/gene/NPAS2
related-gene gene-symbol ghr-page
OPN4 https://ghr.nlm.nih.gov/gene/OPN4
html:p related-gene gene-symbol ghr-page
PER2 https://ghr.nlm.nih.gov/gene/PER2
html:p
html:p
html:p
related-gene-list
Senior-Løken syndrome https://ghr.nlm.nih.gov/condition/senior-loken-syndrome Senior-Løken syndrome is a rare disorder, with an estimated prevalence of html:p autosomal recessive CEP290 https://ghr.nlm.nih.gov/gene/CEP290 Loken-Senior syndrome db key 2012-06 2017-12-29
about 1 in 1 million people worldwide. Only a few families with the condition related-gene gene-symbol ghr-page renal dysplasia and retinal aplasia GTR C0403553
have been described in the medical literature. IQCB1 https://ghr.nlm.nih.gov/gene/IQCB1 renal-retinal syndrome db key
html:p related-gene gene-symbol ghr-page Senior-Loken syndrome GTR C1836517
NPHP1 https://ghr.nlm.nih.gov/gene/NPHP1 db key
related-gene gene-symbol ghr-page GTR C1846979
NPHP4 https://ghr.nlm.nih.gov/gene/NPHP4 db key
related-gene gene-symbol ghr-page GTR C1846980
SDCCAG8 https://ghr.nlm.nih.gov/gene/SDCCAG8 db key
related-gene gene-symbol ghr-page GTR C1857779
html:p WDR19 https://ghr.nlm.nih.gov/gene/WDR19 db key
GTR C3150877
db key
MeSH D052177
db key
MeSH D057130
db key
OMIM 266900
db key
OMIM 606995
db key
OMIM 606996
db key
OMIM 609254
db key
OMIM 610189
db key
OMIM 613615
db key
Orphanet 3156
db key
related-gene-list SNOMED CT 236531005
Sensorineural deafness and male infertility https://ghr.nlm.nih.gov/condition/sensorineural-deafness-and-male-infertility The prevalence of sensorineural deafness and male infertility is unknown. html:p autosomal recessive CATSPER2 https://ghr.nlm.nih.gov/gene/CATSPER2 chromosome 15q15.3 deletion syndrome db key 2010-04 2017-12-29
related-gene gene-symbol ghr-page deafness-infertility syndrome GTR C1970187
STRC https://ghr.nlm.nih.gov/gene/STRC DIS db key
related-chromosome name ghr-page GeneReviews catsper-mi
15 https://ghr.nlm.nih.gov/chromosome/15 db key
MeSH D007248
db key
OMIM 611102
db key
Orphanet 94064
db key
related-gene-list SNOMED CT 700489002
Sepiapterin reductase deficiency https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency Sepiapterin reductase deficiency appears to be a rare condition. At least html:p autosomal recessive SPR https://ghr.nlm.nih.gov/gene/SPR dopa-responsive dystonia due to sepiapterin reductase deficiency db key 2011-06 2017-12-29
30 cases have been described in the scientific literature. SPR deficiency GTR C0268468
db key
GeneReviews spr-def
db key
MeSH D004421
db key
OMIM 612716
db key
Orphanet 70594
db key
SNOMED CT 45116002
html:p
related-gene-list
Septo-optic dysplasia https://ghr.nlm.nih.gov/condition/septo-optic-dysplasia Septo-optic dysplasia has a reported incidence of 1 in 10,000 newborns. html:p autosomal dominant HESX1 https://ghr.nlm.nih.gov/gene/HESX1 De Morsier syndrome db key 2010-03 2017-12-29
memo related-gene gene-symbol ghr-page septooptic dysplasia GTR C0338503
autosomal recessive OTX2 https://ghr.nlm.nih.gov/gene/OTX2 SOD db key
related-gene gene-symbol ghr-page ICD-10-CM Q04.4
PROKR2 https://ghr.nlm.nih.gov/gene/PROKR2 db key
html:p related-gene gene-symbol ghr-page MeSH D025962
SOX2 https://ghr.nlm.nih.gov/gene/SOX2 db key
OMIM 182230
db key
Orphanet 3157
db key
SNOMED CT 7611002
html:p
html:p
html:p
related-gene-list
Severe congenital neutropenia https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia The incidence of severe congenital neutropenia is estimated to be 1 in html:p autosomal dominant CSF3R https://ghr.nlm.nih.gov/gene/CSF3R congenital agranulocytosis db key 2017-09 2017-12-29
200,000 individuals. memo related-gene gene-symbol ghr-page congenital neutropenia GTR C1845987
autosomal recessive ELANE https://ghr.nlm.nih.gov/gene/ELANE infantile genetic agranulocytosis db key
memo related-gene gene-symbol ghr-page Kostmann disease GTR C1853118
X-linked recessive G6PC3 https://ghr.nlm.nih.gov/gene/G6PC3 Kostmann's agranulocytosis db key
related-gene gene-symbol ghr-page Kostmann's syndrome GTR C1859966
GFI1 https://ghr.nlm.nih.gov/gene/GFI1 severe infantile genetic neutropenia db key
related-gene gene-symbol ghr-page GTR C2675526
HAX1 https://ghr.nlm.nih.gov/gene/HAX1 db key
related-gene gene-symbol ghr-page GTR C2751288
JAGN1 https://ghr.nlm.nih.gov/gene/JAGN1 db key
related-gene gene-symbol ghr-page GTR C3809031
html:p TCIRG1 https://ghr.nlm.nih.gov/gene/TCIRG1 db key
related-gene gene-symbol ghr-page GTR C4014954
VPS45 https://ghr.nlm.nih.gov/gene/VPS45 db key
html:p related-gene gene-symbol ghr-page GTR C4310764
WAS https://ghr.nlm.nih.gov/gene/WAS db key
GTR CN032247
db key
GeneReviews cyclic-n
db key
GeneReviews g6pc3-def
db key
GeneReviews was
db key
ICD-10-CM D70.0
db key
MeSH D009503
db key
OMIM 202700
db key
OMIM 300299
db key
OMIM 610738
db key
OMIM 612541
db key
OMIM 613107
db key
OMIM 615285
db key
OMIM 616022
db key
OMIM 617014
db key
Orphanet 42738
db key
SNOMED CT 718882006
db key
synonym-list db-key-list SNOMED CT 89655007
Sézary syndrome https://ghr.nlm.nih.gov/condition/sezary-syndrome Sézary syndrome is a rare condition, although its prevalence is unknown. It html:p pattern unknown synonym Sezary syndrome key 2017-12-29
is the second most common form of cutaneous T-cell lymphoma after mycosis synonym Sezary's lymphoma db-key C0036920
fungoides, accounting for approximately 3 to 5 percent of cases of cutaneous key
T-cell lymphoma. db-key C84.1
key
db-key C84.10
key
html:p db-key C84.11
key
db-key C84.12
key
db-key C84.13
key
db-key C84.14
key
db-key C84.15
key
html:p db-key C84.16
key
db-key C84.17
html:p key
db-key C84.18
key
db-key C84.19
html:p key
db-key D012751
key
db-key 3162
key
related-gene-list 4950009
Sheldon-Hall syndrome https://ghr.nlm.nih.gov/condition/sheldon-hall-syndrome The prevalence of Sheldon-Hall syndrome is unknown; however, it is thought html:p autosomal dominant MYH3 https://ghr.nlm.nih.gov/gene/MYH3 arthrogryposis multiplex congenita, distal, type 2B db key 2015-06 2017-12-29
to be the most common type of distal arthrogryposis. About 100 affected related-gene gene-symbol ghr-page DA2B GTR C1834523
individuals have been described in the medical literature. TNNI2 https://ghr.nlm.nih.gov/gene/TNNI2 distal arthrogryposis type 2B db key
related-gene gene-symbol ghr-page SHS ICD-10-CM Q74.3
TNNT3 https://ghr.nlm.nih.gov/gene/TNNT3 db key
related-gene gene-symbol ghr-page MeSH D001176
TPM2 https://ghr.nlm.nih.gov/gene/TPM2 db key
OMIM 601680
db key
Orphanet 1147
db key
SNOMED CT 715216008
html:p
html:p
related-gene-list
Short/branched chain acyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/short-branched-chain-acyl-coa-dehydrogenase-de SBCAD deficiency is a rare condition; its worldwide prevalence is unknown. html:p autosomal recessive ACADSB https://ghr.nlm.nih.gov/gene/ACADSB 2-MBADD db key 2017-02 2017-12-29
ficiency This condition is most common among Hmong populations in Southeast Asia and in 2-MBCD deficiency GTR C1864912
people of Hmong descent, affecting 1 in 250 to 1 in 500 people in these 2-MBG db key
communities. These individuals do not usually develop health problems related to 2-methylbutyryl-CoA dehydrogenase deficiency MeSH D000592
the condition. 2-methylbutyryl-coenzyme A dehydrogenase deficiency db key
2-methylbutyryl glycinuria OMIM 610006
html:p SBCADD db key
short/branched-chain acyl-CoA dehydrogenase deficiency Orphanet 79157
db key
SNOMED CT 444838008
html:p
html:p
related-gene-list
Short-chain acyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency This disorder is thought to affect approximately 1 in 35,000 to 50,000 html:p autosomal recessive ACADS https://ghr.nlm.nih.gov/gene/ACADS ACADS deficiency db key 2015-05 2017-12-29
newborns. deficiency of butyryl-CoA dehydrogenase GTR C0342783
lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase db key
html:p deficiency GeneReviews scad
SCAD deficiency db key
SCADH deficiency ICD-10-CM E71.312
short-chain acyl-coenzyme A dehydrogenase deficiency db key
MeSH D008052
db key
html:p OMIM 201470
db key
Orphanet 26792
db key
SNOMED CT 124166007
html:p db key
SNOMED CT 237998000
html:p
related-gene-list
Short QT syndrome https://ghr.nlm.nih.gov/condition/short-qt-syndrome Short QT syndrome appears to be rare. At least 70 cases have been html:p autosomal dominant KCNH2 https://ghr.nlm.nih.gov/gene/KCNH2 SQTS db key 2013-06 2017-12-29
identified worldwide since the condition was discovered in 2000. However, the related-gene gene-symbol ghr-page GTR C1865018
condition may be underdiagnosed because some affected individuals never KCNJ2 https://ghr.nlm.nih.gov/gene/KCNJ2 db key
experience symptoms. related-gene gene-symbol ghr-page GTR C1865019
KCNQ1 https://ghr.nlm.nih.gov/gene/KCNQ1 db key
GTR C1865020
db key
html:p MeSH D001145
db key
OMIM 609620
db key
OMIM 609621
db key
OMIM 609622
db key
Orphanet 51083
db key
related-gene-list SNOMED CT 698272007
, hyperextensibility, hernia, ocular , Rieger anomaly, https://ghr.nlm.nih.gov/condition/short--hyperextensibility-hernia-ocular SHORT syndrome is a rare condition; its prevalence is unknown. Only a few html:p autosomal dominant PIK3R1 https://ghr.nlm.nih.gov/gene/PIK3R1 growth retardation-Rieger anomaly db key 2013-12 2017-12-29
and teething delay --rieger-anomaly-and-teething-delay affected individuals and families have been reported worldwide. lipodystrophy, partial, with Rieger anomaly and GTR C0878684
-hyperextensibility-Rieger anomaly-teething delay db key
html:p SHORT syndrome GeneReviews short
db key
MeSH D006130
db key
OMIM 269880
db key
Orphanet 3163
html:p db key
SNOMED CT 237608006
html:p
related-gene-list
Shprintzen-Goldberg syndrome https://ghr.nlm.nih.gov/condition/shprintzen-goldberg-syndrome Shprintzen-Goldberg syndrome is a rare condition, although its prevalence html:p autosomal dominant FBN1 https://ghr.nlm.nih.gov/gene/FBN1 Marfanoid-craniosynostosis syndrome db key 2016-05 2017-12-29
is unknown. It is difficult to identify the number of affected individuals, related-gene gene-symbol ghr-page Shprintzen-Goldberg craniosynostosis syndrome GTR C1321551
because some cases diagnosed as Shprintzen-Goldberg syndrome may instead be SKI https://ghr.nlm.nih.gov/gene/SKI db key
Marfan syndrome or Loeys-Dietz syndrome, which have overlapping signs and html:p GeneReviews sgs
symptoms. db key
MeSH D003398
db key
OMIM 182212
db key
Orphanet 2462
db key
html:p SNOMED CT 719069008
html:p
html:p
html:p
related-gene-list
Shwachman-Diamond syndrome https://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome Researchers are not sure how common Shwachman-Diamond syndrome is. Several html:p autosomal recessive SBDS https://ghr.nlm.nih.gov/gene/SBDS Congenital Lipomatosis of Pancreas db key 2007-12 2017-12-29
hundred cases have been reported in scientific studies. Metaphyseal chondrodysplasia, Shwachman type GTR C0272170
html:p SDS db key
Shwachman-Bodian-Diamond syndrome GeneReviews sds
Shwachman-Bodian syndrome db key
Shwachman-Diamond-Oski Syndrome MeSH D001855
Shwachman syndrome db key
MeSH D010188
db key
OMIM 260400
db key
Orphanet 811
db key
SNOMED CT 89454001
html:p
html:p
html:p
html:p
related-gene-list
Sialic acid storage disease https://ghr.nlm.nih.gov/condition/sialic-acid-storage-disease Sialic acid storage disease is a very rare disorder. ISSD has been html:p autosomal recessive SLC17A5 https://ghr.nlm.nih.gov/gene/SLC17A5 free sialic acid storage disease db key 2008-02 2017-12-29
identified in only a few dozen infants worldwide. Salla disease occurs mainly in N-acetylneuraminic acid storage disease GTR C1096902
Finland and Sweden and has been reported in approximately 150 people. A few NANA storage disease db key
individuals have been identified as having intermediate severe Salla disease. sialuria, Finnish type GTR C1096903
db key
html:p GeneReviews issd
db key
MeSH D029461
db key
OMIM 269920
db key
OMIM 604369
db key
Orphanet 834
db key
SNOMED CT 238051008
html:p db key
SNOMED CT 34566007
db key
SNOMED CT 87074006
html:p
related-gene-list
Sialidosis https://ghr.nlm.nih.gov/condition/sialidosis The overall prevalence of sialidosis is unknown. Sialidosis type I appears html:p autosomal recessive NEU1 https://ghr.nlm.nih.gov/gene/NEU1 cherry red spot myoclonus syndrome db key 2010-05 2017-12-29
to be more common in people with Italian ancestry. mucolipidosis I GTR C0268226
mucolipidosis type I db key
html:p myoclonus cherry red spot syndrome GTR C0268228
db key
MeSH D009081
db key
OMIM 256550
db key
Orphanet 812
db key
Orphanet 87876
db key
SNOMED CT 124461006
db key
SNOMED CT 34960006
html:p db key
SNOMED CT 38795005
html:p
html:p
related-gene-list
Sialuria https://ghr.nlm.nih.gov/condition/sialuria Fewer than 10 people worldwide have been diagnosed with sialuria. There are html:p autosomal dominant GNE https://ghr.nlm.nih.gov/gene/GNE French type sialuria db key 2008-12 2017-12-29
probably more people with the disorder who have not been diagnosed, as sialuria Sialuria, French type GTR C0342853
can be difficult to detect because of its variable features. db key
GeneReviews sft
db key
MeSH D008661
db key
html:p OMIM 269921
db key
Orphanet 3166
db key
html:p SNOMED CT 238051008
related-gene-list
Sick sinus syndrome https://ghr.nlm.nih.gov/condition/sick-sinus-syndrome Sick sinus syndrome accounts for 1 in 600 patients with heart disease who html:p autosomal dominant HCN4 https://ghr.nlm.nih.gov/gene/HCN4 sinus node disease db key 2013-08 2017-12-29
are over age 65. The incidence of this condition increases with age. memo related-gene gene-symbol ghr-page sinus node dysfunction GTR C1834144
autosomal recessive MYH6 https://ghr.nlm.nih.gov/gene/MYH6 SND db key
related-gene gene-symbol ghr-page SSS GTR C1837845
SCN5A https://ghr.nlm.nih.gov/gene/SCN5A db key
GTR C3279791
db key
ICD-10-CM I49.5
db key
MeSH D012804
html:p db key
OMIM 163800
db key
OMIM 608567
db key
OMIM 614090
db key
Orphanet 166282
db key
SNOMED CT 233913007
db key
html:p SNOMED CT 36083008
db key
SNOMED CT 60423000
related-gene-list
Sickle cell disease https://ghr.nlm.nih.gov/condition/sickle-cell-disease Sickle cell disease affects millions of people worldwide. It is most html:p autosomal recessive HBB https://ghr.nlm.nih.gov/gene/HBB HbS disease db key 2012-08 2017-12-29
common among people whose ancestors come from Africa; Mediterranean countries Hemoglobin S Disease GTR C0002895
such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and SCD db key
Spanish-speaking regions in South America, Central America, and parts of the Sickle cell disorders GeneReviews sickle
Caribbean.Sickle cell disease is the most common inherited blood disorder in the html:p Sickling disorder due to hemoglobin S db key
United States, affecting 70,000 to 80,000 Americans. The disease is estimated ICD-10-CM D57
to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic db key
Americans. ICD-10-CM D57.0
db key
html:p ICD-10-CM D57.00
db key
ICD-10-CM D57.01
db key
ICD-10-CM D57.1
db key
ICD-10-CM D57.02
db key
ICD-10-CM D57.2
db key
ICD-10-CM D57.3
db key
ICD-10-CM D57.4
db key
ICD-10-CM D57.8
db key
ICD-10-CM D57.20
db key
ICD-10-CM D57.21
db key
ICD-10-CM D57.40
db key
ICD-10-CM D57.41
db key
ICD-10-CM D57.80
db key
ICD-10-CM D57.81
db key
ICD-10-CM D57.211
db key
ICD-10-CM D57.212
db key
ICD-10-CM D57.219
db key
ICD-10-CM D57.411
db key
ICD-10-CM D57.412
db key
ICD-10-CM D57.419
db key
ICD-10-CM D57.811
db key
ICD-10-CM D57.812
db key
ICD-10-CM D57.819
db key
MeSH D000755
db key
OMIM 603903
db key
Orphanet 232
db key
SNOMED CT 127041004
db key
SNOMED CT 127045008
db key
SNOMED CT 416180004
db key
SNOMED CT 417357006
db key
related-gene-list SNOMED CT 417425009
Silver syndrome https://ghr.nlm.nih.gov/condition/silver-syndrome Although Silver syndrome appears to be a rare condition, its exact html:p autosomal dominant BSCL2 https://ghr.nlm.nih.gov/gene/BSCL2 Silver spastic paraplegia syndrome db key 2012-02 2017-12-29
prevalence is unknown. spastic paraplegia 17 GTR CN074197
spastic paraplegia with amyotrophy of hands and feet db key
SPG17 GeneReviews hsp
db key
GeneReviews spg17
db key
ICD-10-CM G11.4
db key
html:p MeSH D015419
db key
Orphanet 100998
db key
SNOMED CT 230261006
db key
SNOMED CT 39912006
related-gene-list
Simpson-Golabi-Behmel syndrome https://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome The incidence of Simpson-Golabi-Behmel syndrome is unknown. At least 250 html:p X-linked GPC3 https://ghr.nlm.nih.gov/gene/GPC3 DGSX db key 2017-07 2017-12-29
people worldwide have been diagnosed with this disorder. related-gene gene-symbol ghr-page mental retardation-overgrowth syndrome GTR C0796154
GPC4 https://ghr.nlm.nih.gov/gene/GPC4 SDYS db key
related-gene gene-symbol ghr-page SGBS GTR C1846175
OFD1 https://ghr.nlm.nih.gov/gene/OFD1 SGBS1 db key
related-gene gene-symbol ghr-page Simpson dysplasia syndrome GeneReviews sgbs
html:p PIGA https://ghr.nlm.nih.gov/gene/PIGA Simpson-Golabi-Behmel syndrome type 1 db key
Simpson syndrome MeSH D000015
db key
MeSH D005877
db key
OMIM 300209
html:p db key
OMIM 312870
db key
Orphanet 373
db key
Orphanet 79022
html:p db key
SNOMED CT 439143004
html:p
related-gene-list
Sitosterolemia https://ghr.nlm.nih.gov/condition/sitosterolemia Only 80 to 100 individuals with sitosterolemia have been described in the html:p autosomal recessive ABCG5 https://ghr.nlm.nih.gov/gene/ABCG5 beta-sitosterolemia db key 2016-11 2017-12-29
medical literature. However, researchers believe that this condition is likely related-gene gene-symbol ghr-page phytosterolaemia GTR C0342907
underdiagnosed because mild cases often do not come to medical attention. ABCG8 https://ghr.nlm.nih.gov/gene/ABCG8 phytosterolemia db key
Studies suggest that the prevalence may be at least 1 in 50,000 people. plant sterol storage disease GeneReviews stsl
sitosterolaemia db key
MeSH D008052
db key
OMIM 210250
db key
html:p Orphanet 2882
db key
SNOMED CT 238104009
db key
html:p SNOMED CT 65419005
html:p
html:p
related-gene-list
Sjögren-Larsson syndrome https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome Sjögren-Larsson syndrome was first observed in Sweden, where the prevalence html:p autosomal recessive ALDH3A2 https://ghr.nlm.nih.gov/gene/ALDH3A2 congenital icthyosis mental retardation spasticity syndrome db key 2011-10 2017-12-29
of this condition is 1 per 250,000 individuals. Outside Sweden, the prevalence FALDH deficiency GTR C0037231
of this condition is unknown. fatty aldehyde dehydrogenase deficiency db key
html:p ichthyosis oligophrenia syndrome MeSH D016111
Sjogren-Larsson syndrome db key
SLS OMIM 270200
db key
SNOMED CT 111303009
html:p
html:p
html:p
synonym-list db-key-list
Sjögren syndrome https://ghr.nlm.nih.gov/condition/sjogren-syndrome Sjögren syndrome is a relatively common disorder; it occurs in 0.1 to 4 html:p pattern unknown synonym Gougerot-Houwer-Sjogren syndrome key 2017-12-29
percent of the population. It is difficult to determine the exact prevalence synonym Gougerot-Sjogren syndrome db-key C1527336
because the characteristic features of this disorder, dry eyes and dry mouth, synonym keratoconjunctivitis sicca key
can also be caused by many other conditions. Women develop Sjögren syndrome html:p synonym keratoconjunctivitis sicca-xerostomia db-key M35.0
about 10 times more often than men; the specific reason for this difference is synonym secreto-inhibitor-xerodermostenosis key
unknown but likely involves the effects of sex hormones on immune system synonym sicca syndrome db-key M35.00
function. synonym Sjogren-Gougerot syndrome key
synonym Sjogren's syndrome db-key M35.01
html:p key
db-key M35.02
key
db-key M35.03
key
db-key M35.04
html:p key
db-key M35.09
key
db-key D012859
key
db-key 270150
key
db-key 378
key
db-key 302896008
key
83901003
html:p
inheritance-pattern-list related-gene-list
SLC4A1-associated distal renal tubular acidosis https://ghr.nlm.nih.gov/condition/slc4a1-associated-distal-renal-tubular-acidosi The prevalence of SLC4A1-associated distal renal tubular acidosis is html:p ad autosomal dominant ghr-page classic distal renal tubular acidosis db-key db key 2014-08 2017-12-29
s unknown. The condition is most common in Southeast Asia, especially Thailand. inheritance-pattern code memo https://ghr.nlm.nih.gov/gene/SLC4A1 renal tubular acidosis type I GTR C0259810
ar autosomal recessive RTA, classic type db-key db key
GTR C1969038
db-key db key
MeSH D000141
db-key db key
OMIM 179800
db-key db key
OMIM 611590
db-key db key
Orphanet 18
db-key db key
Orphanet 93608
html:p db-key db key
Orphanet 93610
db-key db key
SNOMED CT 236461000
html:p
html:p
related-gene-list
Small fiber neuropathy https://ghr.nlm.nih.gov/condition/small-fiber-neuropathy The prevalence of small fiber neuropathy is unknown. html:p autosomal dominant SCN9A https://ghr.nlm.nih.gov/gene/SCN9A SFN db key 2012-11 2017-12-29
related-gene gene-symbol ghr-page SFNP GTR C3276709
SCN10A https://ghr.nlm.nih.gov/gene/SCN10A small nerve fiber neuropathy db key
MeSH D000071075
db key
OMIM 133020
db key
Orphanet 306577
html:p db key
SNOMED CT 709489006
html:p
html:p
related-gene-list
Smith-Lemli-Opitz syndrome https://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 html:p autosomal recessive DHCR7 https://ghr.nlm.nih.gov/gene/DHCR7 7-Dehydrocholesterol reductase deficiency db key 2007-07 2017-12-29
newborns. This condition is most common in whites of European ancestry, RSH Syndrome GTR C0175694
particularly people from Central European countries such as Slovakia and the SLO syndrome db key
Czech Republic. It is very rare among African and Asian populations. SLOS GeneReviews slo
db key
ICD-10-CM E78.72
db key
MeSH D019082
db key
OMIM 270400
db key
html:p Orphanet 818
db key
SNOMED CT 43929004
related-gene-list
Smith-Magenis syndrome https://ghr.nlm.nih.gov/condition/smith-magenis-syndrome Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. html:p not inherited RAI1 https://ghr.nlm.nih.gov/gene/RAI1 17p- syndrome db key 2017-10 2017-12-29
However, researchers believe that many people with this condition are not related-chromosome name ghr-page 17p11.2 monosomy GTR C0795864
diagnosed, so the true prevalence may be closer to 1 in 15,000 individuals. 17 https://ghr.nlm.nih.gov/chromosome/17 chromosome 17p deletion syndrome db key
deletion 17p syndrome GeneReviews sms
html:p partial monosomy 17p db key
SMS MeSH D058496
db key
OMIM 182290
db key
Orphanet 819
db key
html:p SNOMED CT 401315004
html:p
html:p
related-gene-list
Snyder-Robinson syndrome https://ghr.nlm.nih.gov/condition/snyder-robinson-syndrome Snyder-Robinson syndrome is a rare condition; its prevalence is unknown. html:p X-linked recessive SMS https://ghr.nlm.nih.gov/gene/SMS mental retardation, X-linked, syndromic, Snyder-Robinson type db key 2016-11 2017-12-29
About 10 affected families have been identified worldwide. Snyder-Robinson X-linked mental retardation syndrome GTR C0796160
spermine synthase deficiency db key
html:p SRS GeneReviews snyder-robinson
db key
MeSH D002658
db key
html:p MeSH D038901
db key
OMIM 309583
db key
html:p Orphanet 3063
db key
SNOMED CT 702416008
html:p
related-gene-list
SOST-related sclerosing bone dysplasia https://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia SOST-related sclerosing bone dysplasia is a rare condition; its exact html:p ar autosomal recessive SOST synonym db-key db key 2009-06 2017-12-29
prevalence is unknown.Approximately 100 individuals with sclerosteosis have been synonym GTR C0265301
reported in the scientific literature. Sclerosteosis is most common in the synonym db-key db key
Afrikaner population of South Africa.Van Buchem disease has been reported in synonym GTR C0432272
approximately 30 people. Most people with van Buchem disease are of Dutch synonym db-key db key
ancestry. synonym GeneReviews sost
db-key db key
MeSH D015576
db-key db key
OMIM 239100
db-key db key
OMIM 269500
html:p db-key db key
Orphanet 3152
db-key db key
Orphanet 3416
db-key db key
SNOMED CT 17568006
db-key db key
html:p SNOMED CT 59763006
html:p
html:p
related-gene-list
Sotos syndrome https://ghr.nlm.nih.gov/condition/sotos-syndrome Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. html:p autosomal dominant NSD1 https://ghr.nlm.nih.gov/gene/NSD1 cerebral gigantism db key 2015-02 2017-12-29
Because many of the features of Sotos syndrome can be attributed to other Sotos sequence GTR C0175695
conditions, many cases of this disorder are likely not properly diagnosed, so Sotos' syndrome db key
the true incidence may be closer to 1 in 5,000. GeneReviews sotos
db key
ICD-10-CM E22.0
db key
MeSH D058495
db key
html:p OMIM 117550
db key
Orphanet 821
db key
SNOMED CT 75968004
html:p
html:p
inheritance-pattern-list related-gene-list
SOX2 anophthalmia syndrome https://ghr.nlm.nih.gov/condition/sox2-anophthalmia-syndrome SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. html:p ad autosomal dominant ghr-page AEG syndrome db-key db key 2009-03 2017-12-29
About 10 percent to 15 percent of people with anophthalmia in both eyes have https://ghr.nlm.nih.gov/gene/SOX2 Anophthalmia-esophageal-genital syndrome GTR C1859773
SOX2 anophthalmia syndrome. html:p SOX2-related eye disorders db-key db key
syndromic microphthalmia 3 GeneReviews sox2
db-key db key
MeSH D000853
db-key db key
OMIM 206900
db-key db key
html:p SNOMED CT 698851003
related-gene-list
Spastic paraplegia type 11 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-11 Over 100 cases of spastic paraplegia type 11 have been reported. Although html:p autosomal recessive SPG11 https://ghr.nlm.nih.gov/gene/SPG11 autosomal recessive spastic paraplegia complicated with thin corpus callosum db key 2009-04 2017-12-29
this condition is thought to be rare, its exact prevalence is unknown. autosomal recessive spastic paraplegia with mental impairment and thin corpus GTR C1858479
callosum db key
HSP-TCC GeneReviews spg11
SPG11-related hereditary spastic paraplegia with thin corpus callosum db key
ICD-10-CM G11.4
db key
MeSH D010264
db key
MeSH D015419
db key
html:p OMIM 604360
db key
Orphanet 685
db key
SNOMED CT 715491000
html:p
related-gene-list
Spastic paraplegia type 15 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-15 Spastic paraplegia type 15 is a rare condition, although its exact html:p autosomal recessive ZFYVE26 https://ghr.nlm.nih.gov/gene/ZFYVE26 autosomal recessive spastic paraplegia 15 db key 2014-04 2017-12-29
prevalence is unknown. Kjellin syndrome GTR C1849128
spastic paraplegia and retinal degeneration db key
SPG15 GeneReviews hsp
db key
ICD-10-CM G11.4
db key
MeSH D015419
db key
html:p OMIM 270700
db key
Orphanet 685
db key
SNOMED CT 709417000
html:p
html:p
related-gene-list
Spastic paraplegia type 2 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-2 The prevalence of all hereditary spastic paraplegias combined is estimated html:p X-linked recessive PLP1 https://ghr.nlm.nih.gov/gene/PLP1 Hereditary X-linked Recessive Spastic Paraplegia db key 2008-03 2017-12-29
to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 2 likely spastic paraplegia 2 GTR C1839264
accounts for only a small percentage of all spastic paraplegia cases. X linked Recessive Hereditary Spastic Paraplegia db key
GeneReviews hsp
db key
GeneReviews pmd
db key
ICD-10-CM G11.4
db key
MeSH D010264
html:p db key
MeSH D015419
db key
OMIM 312920
db key
Orphanet 685
db key
Orphanet 99015
db key
SNOMED CT 230260007
db key
SNOMED CT 230261006
db key
related-gene-list SNOMED CT 39912006
Spastic paraplegia type 31 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-31 Spastic paraplegia type 31 is one of a subgroup of hereditary spastic html:p autosomal dominant REEP1 https://ghr.nlm.nih.gov/gene/REEP1 autosomal dominant spastic paraplegia 31 db key 2015-04 2017-12-29
paraplegias known as autosomal dominant hereditary spastic paraplegia, which has spastic paraplegia 31 GTR C1853247
an estimated prevalence of one to 12 per 100,000 individuals. Spastic SPG31 db key
paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant GeneReviews hsp
hereditary spastic paraplegia cases. db key
ICD-10-CM G11.4
db key
MeSH D015419
db key
html:p OMIM 610250
db key
Orphanet 685
db key
Orphanet 101011
db key
SNOMED CT 230260007
related-gene-list
Spastic paraplegia type 3A https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-3a Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic html:p autosomal dominant ATL1 https://ghr.nlm.nih.gov/gene/ATL1 spastic paraplegia 3 db key 2015-03 2017-12-29
paraplegias known as autosomal dominant hereditary spastic paraplegia, which has spastic paraplegia 3A GTR C2931355
an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia SPG3A db key
type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary GeneReviews hsp
spastic paraplegia cases. db key
GeneReviews spg3a
db key
ICD-10-CM G11.4
db key
html:p MeSH D015419
db key
OMIM 182600
db key
Orphanet 685
db key
SNOMED CT 39912006
related-gene-list
Spastic paraplegia type 4 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-4 The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in html:p autosomal dominant SPAST https://ghr.nlm.nih.gov/gene/SPAST spastic paraplegia 4 db key 2008-01 2017-12-29
100,000 people worldwide. SPG4 GTR C1866855
db key
GeneReviews hsp
db key
GeneReviews spg4
db key
html:p ICD-10-CM G11.4
db key
MeSH D010264
db key
MeSH D015419
db key
OMIM 182601
db key
Orphanet 685
db key
related-gene-list SNOMED CT 230260007
Spastic paraplegia type 5A https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-5a Spastic paraplegia type 5A is a rare condition. Its prevalence is unknown. html:p autosomal recessive CYP7B1 https://ghr.nlm.nih.gov/gene/CYP7B1 autosomal recessive spastic paraplegia 5A db key 2017-09 2017-12-29
spastic paraplegia 5A GTR C1849115
SPG5A db key
GeneReviews hsp
db key
ICD-10-CM G11.4
db key
MeSH D015419
db key
OMIM 270800
db key
html:p Orphanet 100986
db key
SNOMED CT 39912006
related-gene-list
Spastic paraplegia type 7 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-7 The prevalence of all hereditary spastic paraplegias combined is estimated html:p autosomal recessive SPG7 https://ghr.nlm.nih.gov/gene/SPG7 Autosomal Recessive Hereditary Spastic Paraplegia db key 2008-01 2017-12-29
to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 7 likely Hereditary Spastic Paraplegia GTR C1846564
accounts for only a small percentage of all spastic paraplegia cases. hereditary spastic paraplegia, paraplegin type db key
spastic paraplegia 7 GeneReviews hsp
db key
GeneReviews spg7
db key
ICD-10-CM G11.4
db key
MeSH D010264
html:p db key
MeSH D015419
db key
OMIM 607259
db key
Orphanet 685
db key
Orphanet 99013
db key
SNOMED CT 715776003
related-gene-list
Spastic paraplegia type 8 https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-8 The prevalence of all hereditary spastic paraplegias combined is estimated html:p autosomal dominant WASHC5 https://ghr.nlm.nih.gov/gene/WASHC5 autosomal dominant spastic paraplegia 8 db key 2009-03 2017-12-29
to be 1 to 18 in 100,000 people worldwide. Spastic paraplegia type 8 likely hereditary spastic paraplegia 8 GTR C1863704
accounts for only a small percentage of all spastic paraplegia cases. spastic paraplegia 8 db key
SPG 8 GeneReviews spg8
db key
ICD-10-CM G11.4
db key
MeSH D010264
html:p db key
MeSH D015419
db key
OMIM 603563
db key
Orphanet 685
db key
related-gene-list SNOMED CT 230260007
Spina bifida https://ghr.nlm.nih.gov/condition/spina-bifida Spina bifida is one of the most common types of neural tube defect, html:p pattern unknown MTHFR https://ghr.nlm.nih.gov/gene/MTHFR cleft spine db key 2014-11 2017-12-29
affecting an estimated 1 in 2,500 newborns worldwide. For unknown reasons, the open spine GTR C0027794
prevalence of spina bifida varies among different geographic regions and ethnic rachischisis db key
groups. In the United States, this condition occurs more frequently in Hispanics spinal dysraphism GTR C1866558
and non-Hispanic whites than in African Americans. db key
ICD-10-CM Q05
db key
ICD-10-CM Q05.0
html:p db key
ICD-10-CM Q05.1
db key
ICD-10-CM Q05.2
db key
ICD-10-CM Q05.3
db key
ICD-10-CM Q05.4
db key
ICD-10-CM Q05.5
db key
html:p ICD-10-CM Q05.6
db key
ICD-10-CM Q05.7
db key
ICD-10-CM Q05.8
db key
ICD-10-CM Q05.9
db key
ICD-10-CM Q07.01
db key
ICD-10-CM Q07.03
db key
ICD-10-CM Q76.0
db key
MeSH D016135
db key
OMIM 182940
db key
OMIM 601634
db key
Orphanet 823
db key
SNOMED CT 61819007
db key
related-gene-list SNOMED CT 67531005
Spinal and bulbar muscular atrophy https://ghr.nlm.nih.gov/condition/spinal-and-bulbar-muscular-atrophy This condition affects fewer than 1 in 150,000 males and is very rare in html:p X-linked recessive AR https://ghr.nlm.nih.gov/gene/AR bulbospinal muscular atrophy, X-linked db key 2012-12 2017-12-29
females. KD GTR C1839259
Kennedy disease db key
Kennedy spinal and bulbar muscular atrophy GeneReviews kennedy
html:p Kennedy's disease db key
SBMA MeSH D055534
X-linked spinal and bulbar muscular atrophy db key
OMIM 313200
db key
Orphanet 481
db key
SNOMED CT 230253001
related-gene-list
Spinal muscular atrophy https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people. html:p autosomal recessive DYNC1H1 https://ghr.nlm.nih.gov/gene/DYNC1H1 hereditary motor neuronopathy db key 2013-01 2017-12-29
related-gene gene-symbol ghr-page progressive muscular atrophy GTR C0043116
SMN1 https://ghr.nlm.nih.gov/gene/SMN1 SMA db key
related-gene gene-symbol ghr-page spinal amyotrophy GTR C0152109
SMN2 https://ghr.nlm.nih.gov/gene/SMN2 db key
related-gene gene-symbol ghr-page GTR C0393538
UBA1 https://ghr.nlm.nih.gov/gene/UBA1 db key
related-gene gene-symbol ghr-page GTR C1834690
VAPB https://ghr.nlm.nih.gov/gene/VAPB db key
html:p GTR C1838230
db key
GTR C1844934
db key
GTR C1866777
html:p db key
GeneReviews sma
db key
GeneReviews sma-xli
db key
html:p ICD-10-CM G12.0
db key
ICD-10-CM G12.1
db key
MeSH D009134
db key
html:p OMIM 158600
db key
OMIM 182980
db key
OMIM 253300
html:p db key
OMIM 253400
db key
OMIM 253550
db key
html:p OMIM 271150
db key
OMIM 301830
db key
Orphanet 70
html:p db key
SNOMED CT 128212001
db key
SNOMED CT 5262007
db key
SNOMED CT 54280009
db key
SNOMED CT 64383006
db key
related-gene-list SNOMED CT 85505000
Spinal muscular atrophy with progressive myoclonic https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myocl SMA-PME is a rare disorder; approximately a dozen affected families have html:p autosomal recessive ASAH1 https://ghr.nlm.nih.gov/gene/ASAH1 hereditary myoclonus with progressive distal muscular atrophy db key 2013-12 2017-12-29
onic- been described in the scientific literature. Jankovic-Rivera syndrome GTR C1834569
SMA-PME db key
html:p SMAPME MeSH D009134
db key
MeSH D020191
db key
OMIM 159950
db key
Orphanet 2590
db key
SNOMED CT 703524005
html:p
html:p
html:p
related-gene-list
Spinal muscular atrophy with respiratory distress type 1 https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-respiratory-distr SMARD1 appears to be a rare condition, but its prevalence is unknown. More html:p autosomal recessive IGHMBP2 https://ghr.nlm.nih.gov/gene/IGHMBP2 autosomal recessive distal spinal muscular atrophy 1 db key 2013-01 2017-12-29
ess-type-1 than 60 cases have been reported in the scientific literature. DHMN6 GTR C1858517
diaphragmatic spinal muscular atrophy db key
distal hereditary motor neuronopathy type VI MeSH D014897
distal spinal muscular atrophy type 1 db key
DSMA1 OMIM 604320
HMN6 db key
HMNVI Orphanet 98920
severe infantile axonal neuropathy with respiratory failure db key
SIANRF SNOMED CT 711483003
SMARD1
spinal muscular atrophy with respiratory distress
html:p
html:p
related-gene-list
Spinocerebellar ataxia type 1 https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1 SCA1 affects 1 to 2 per 100,000 people worldwide. html:p autosomal dominant ATXN1 https://ghr.nlm.nih.gov/gene/ATXN1 olivopontocerebellar atrophy I db key 2011-02 2017-12-29
SCA1 GTR C0752120
spinocerebellar atrophy I db key
type 1 spinocerebellar ataxia GeneReviews sca1
db key
MeSH D020754
db key
OMIM 164400
html:p db key
Orphanet 98755
db key
SNOMED CT 715748006
html:p
related-gene-list
Spinocerebellar ataxia type 2 https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2 The prevalence of SCA2 is unknown. This condition is estimated to be one of html:p autosomal dominant ATXN2 https://ghr.nlm.nih.gov/gene/ATXN2 SCA2 db key 2011-02 2017-12-29
the most common types of spinocerebellar ataxia; however, all types of GTR C0752121
spinocerebellar ataxia are relatively rare. SCA2 is more common in Cuba, db key
particularly in the Holguín province, where approximately 40 per 100,000 GeneReviews sca2
individuals are affected. db key
MeSH D020754
db key
html:p OMIM 183090
db key
SNOMED CT 715751004
html:p
related-gene-list
Spinocerebellar ataxia type 3 https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 The prevalence of SCA3 is unknown. This condition is thought to be the most html:p autosomal dominant ATXN3 https://ghr.nlm.nih.gov/gene/ATXN3 Azorean ataxia db key 2011-02 2017-12-29
common type of spinocerebellar ataxia; however, all types of spinocerebellar Azorean disease GTR C0024408
ataxia are relatively rare. Machado-Joseph disease db key
MJD GeneReviews sca3
SCA3 db key
MeSH D017827
db key
OMIM 109150
db key
SNOMED CT 91952008
html:p
html:p
related-gene-list
Spinocerebellar ataxia type 36 https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36 Approximately 100 individuals with SCA36 have been reported in the html:p autosomal dominant NOP56 https://ghr.nlm.nih.gov/gene/NOP56 Asidan ataxia db key 2014-12 2017-12-29
scientific literature. Almost all of these individuals have been from two Costa de Morte ataxia GTR C3472711
regions: western Japan and the Costa de Morte in Galicia, Spain. SCA36 db key
spinocerebellar ataxia 36 GeneReviews sca36
db key
MeSH D020754
db key
OMIM 614153
db key
Orphanet 276198
db key
html:p SNOMED CT 711158005
html:p
html:p
related-gene-list
Spinocerebellar ataxia type 6 https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 html:p autosomal dominant CACNA1A https://ghr.nlm.nih.gov/gene/CACNA1A SCA6 db key 2011-02 2017-12-29
individuals. type 6 spinocerebellar ataxia GTR C0752124
db key
GeneReviews sca6
db key
MeSH D020754
html:p db key
OMIM 183086
db key
Orphanet 98758
db key
related-gene-list SNOMED CT 715752006
Spondylocarpotarsal synostosis syndrome https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence html:p autosomal dominant FLNB https://ghr.nlm.nih.gov/gene/FLNB congenital scoliosis with unilateral unsegmented bar db key 2011-09 2017-12-29
is unknown. At least 25 affected individuals have been identified. memo congenital synspondylism GTR C1848934
autosomal recessive SCT db key
SCT syndrome GeneReviews flnb-dis
spondylocarpotarsal syndrome db key
vertebral fusion with carpal coalition MeSH D010009
db key
html:p OMIM 272460
db key
Orphanet 3275
db key
html:p SNOMED CT 702351004
related-gene-list
Spondylocostal dysostosis https://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis Spondylocostal dysostosis is a rare condition, although its exact html:p autosomal dominant DLL3 https://ghr.nlm.nih.gov/gene/DLL3 Jarcho-Levin syndrome db key 2016-06 2017-12-29
prevalence is unknown. memo related-gene gene-symbol ghr-page SCDO GTR C0265343
autosomal recessive HES7 https://ghr.nlm.nih.gov/gene/HES7 db key
related-gene gene-symbol ghr-page GTR C1837549
LFNG https://ghr.nlm.nih.gov/gene/LFNG db key
related-gene gene-symbol ghr-page GTR C1852521
MESP2 https://ghr.nlm.nih.gov/gene/MESP2 db key
related-gene gene-symbol ghr-page GTR C1853296
RIPPLY2 https://ghr.nlm.nih.gov/gene/RIPPLY2 db key
html:p related-gene gene-symbol ghr-page GTR C3150942
TBX6 https://ghr.nlm.nih.gov/gene/TBX6 db key
GTR C4225279
db key
GTR CN032975
db key
GeneReviews spondylocostal-d
db key
html:p MeSH D004413
db key
OMIM 122600
db key
OMIM 277300
db key
OMIM 608681
html:p db key
OMIM 609813
html:p db key
OMIM 613686
db key
OMIM 616566
db key
Orphanet 1797
db key
Orphanet 2311
db key
related-gene-list SNOMED CT 61367005
Spondyloenchondrodysplasia with immune dysregulation https://ghr.nlm.nih.gov/condition/spondyloenchondrodysplasia-with-immune-dysregu SPENCDI appears to be a rare condition, although its prevalence is unknown. html:p autosomal recessive ACP5 https://ghr.nlm.nih.gov/gene/ACP5 combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia db key 2013-12 2017-12-29
lation Roifman-Melamed syndrome GTR C1842763
Roifman–Costa syndrome db key
SPENCDI MeSH D007153
html:p db key
MeSH D010009
db key
OMIM 607944
db key
Orphanet 50816
db key
SNOMED CT 703523004
html:p
html:p
html:p
related-gene-list
Spondyloepimetaphyseal dysplasia, Strudwick type https://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-typ This condition is rare; only a few affected individuals have been reported html:p autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 Dappled metaphysis syndrome db key 2008-07 2017-12-29
e worldwide. SED Strudwick GTR C0700635
SEMD, Strudwick type db key
SMED, Strudwick type MeSH D003095
SMED, type I db key
Spondylometaepiphyseal dysplasia congenita, Strudwick type MeSH D010009
html:p Spondylometaphyseal dysplasia (SMD) db key
Strudwick syndrome OMIM 184250
db key
Orphanet 252
db key
SNOMED CT 702350003
html:p
related-gene-list
Spondyloepiphyseal dysplasia congenita https://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita This condition is rare; the exact incidence is unknown. More than 175 html:p autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 SED congenita db key 2016-04 2017-12-29
cases have been reported in the scientific literature. SED, congenital type GTR C0038015
SEDc db key
Spondyloepiphyseal dysplasia, congenital type ICD-10-CM Q77.7
db key
html:p MeSH D010009
db key
OMIM 183900
db key
Orphanet 253
db key
SNOMED CT 278713008
html:p
related-gene-list
Spondyloperipheral dysplasia https://ghr.nlm.nih.gov/condition/spondyloperipheral-dysplasia This condition is rare; only a few affected individuals have been reported html:p autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 SPD db key 2008-07 2017-12-29
worldwide. spondyloperipheral dysplasia with short ulna GTR C0796173
db key
MeSH D003095
db key
MeSH D010009
db key
OMIM 271700
db key
Orphanet 1856
db key
related-gene-list SNOMED CT 702339001
Spondylothoracic dysostosis https://ghr.nlm.nih.gov/condition/spondylothoracic-dysostosis Spondylothoracic dysostosis affects about one in 200,000 people worldwide. html:p autosomal recessive MESP2 https://ghr.nlm.nih.gov/gene/MESP2 Jarcho-Levin syndrome db key 2016-06 2017-12-29
However, it is much more common in people of Puerto Rican ancestry, affecting STD GTR C0265343
approximately one in 12,000 people. db key
GeneReviews spondylocostal-d
db key
MeSH D004413
db key
SNOMED CT 61367005
html:p
html:p
html:p
related-gene-list
Sporadic hemiplegic migraine https://ghr.nlm.nih.gov/condition/sporadic-hemiplegic-migraine The worldwide prevalence of sporadic hemiplegic migraine is unknown. html:p autosomal dominant ATP1A2 https://ghr.nlm.nih.gov/gene/ATP1A2 non-familial hemiplegic migraine db key 2017-10 2017-12-29
Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic memo related-gene gene-symbol ghr-page SHM GTR C1832903
migraine and that the condition occurs equally in families with multiple not inherited CACNA1A https://ghr.nlm.nih.gov/gene/CACNA1A db key
affected individuals (familial hemiplegic migraine) and in individuals with no ICD-10-CM G43.4
family history of the condition (sporadic hemiplegic migraine). db key
ICD-10-CM G43.40
html:p db key
ICD-10-CM G43.41
db key
ICD-10-CM G43.401
db key
ICD-10-CM G43.409
db key
ICD-10-CM G43.411
db key
html:p ICD-10-CM G43.419
db key
MeSH D020325
db key
Orphanet 569
db key
SNOMED CT 230464001
related-gene-list
Stargardt macular degeneration https://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration Stargardt macular degeneration is the most common form of juvenile macular html:p autosomal dominant ABCA4 https://ghr.nlm.nih.gov/gene/ABCA4 juvenile macular degeneration db key 2010-11 2017-12-29
degeneration, the signs and symptoms of which begin in childhood. The estimated memo related-gene gene-symbol ghr-page macular dystrophy with flecks, type 1 GTR C1838644
prevalence of Stargardt macular degeneration is 1 in 8,000 to 10,000 autosomal recessive ELOVL4 https://ghr.nlm.nih.gov/gene/ELOVL4 Stargardt disease db key
individuals. STGD GTR C1855465
db key
GTR C1863534
db key
ICD-10-CM H35.53
db key
MeSH D008268
db key
OMIM 248200
db key
OMIM 600110
db key
Orphanet 827
db key
SNOMED CT 47673003
db key
related-gene-list SNOMED CT 70099003
Steatocystoma multiplex https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex Although the prevalence of steatocystoma multiplex is unknown, it appears html:p autosomal dominant KRT17 https://ghr.nlm.nih.gov/gene/KRT17 multiple sebaceous cysts db key 2016-09 2017-12-29
to be rare. multiplex steatocystoma GTR C0259771
sebocystomatosis db key
ICD-10-CM L72.2
db key
html:p MeSH D062685
db key
OMIM 184500
db key
Orphanet 3184
db key
related-gene-list SNOMED CT 109433009
Stevens-Johnson syndrome/toxic epidermal necrolysis https://ghr.nlm.nih.gov/condition/stevens-johnson-syndrome-toxic-epidermal-necro SJS/TEN is a rare disease, affecting 1 to 2 per million people each year. html:p not inherited HLA-B https://ghr.nlm.nih.gov/gene/HLA-B drug-induced Stevens Johnson syndrome db key 2015-07 2017-12-29
lysis Stevens-Johnson syndrome (the less severe form of the condition) is more common Lyell's syndrome GTR C0014518
than toxic epidermal necrolysis.People who are HIV-positive and those with a mycoplasma-induced Stevens Johnson syndrome db key
chronic inflammatory disease called systemic lupus erythematosus are more likely Stevens-Johnson syndrome GTR C0038325
to develop SJS/TEN than the general population. The reason for the increased Stevens-Johnson syndrome toxic epidermal necrolysis spectrum db key
risk is unclear, but immune system factors and exposure to multiple medications toxic epidermal necrolysis ICD-10-CM L51.1
may play a role. html:p db key
ICD-10-CM L51.3
db key
MeSH D013262
db key
OMIM 608579
db key
Orphanet 36426
db key
Orphanet 95455
db key
html:p SNOMED CT 124911000119100
db key
SNOMED CT 73442001
html:p
related-gene-list
Stickler syndrome https://ghr.nlm.nih.gov/condition/stickler-syndrome Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I html:p autosomal dominant COL2A1 https://ghr.nlm.nih.gov/gene/COL2A1 hereditary arthro-ophthalmo-dystrophy db key 2016-03 2017-12-29
is the most common form of the condition. memo related-gene gene-symbol ghr-page hereditary arthro-ophthalmopathy GTR C0265235
autosomal recessive COL9A1 https://ghr.nlm.nih.gov/gene/COL9A1 Stickler dysplasia db key
html:p related-gene gene-symbol ghr-page GTR C0265253
COL9A2 https://ghr.nlm.nih.gov/gene/COL9A2 db key
related-gene gene-symbol ghr-page GTR C1852831
COL9A3 https://ghr.nlm.nih.gov/gene/COL9A3 db key
related-gene gene-symbol ghr-page GTR C1858084
COL11A1 https://ghr.nlm.nih.gov/gene/COL11A1 db key
related-gene gene-symbol ghr-page GTR C1861481
COL11A2 https://ghr.nlm.nih.gov/gene/COL11A2 db key
html:p GTR C2020284
db key
GTR C3280342
db key
GeneReviews stickler
db key
MeSH D003095
html:p db key
OMIM 108300
db key
OMIM 154780
html:p db key
OMIM 184840
db key
OMIM 604841
db key
OMIM 609508
db key
html:p OMIM 614134
db key
OMIM 614284
db key
Orphanet 560
db key
Orphanet 828
db key
html:p SNOMED CT 33410002
db key
SNOMED CT 78675000
related-gene-list
STING-associated vasculopathy with onset in infancy https://ghr.nlm.nih.gov/condition/sting-associated-vasculopathy-with-onset-in-in The prevalence of this condition is unknown. Only a few affected html:p autosomal dominant TMEM173 https://ghr.nlm.nih.gov/gene/TMEM173 SAVI db key 2014-10 2017-12-29
fancy individuals have been described in the medical literature. STING-associated vasculopathy, infantile onset GTR C4014722
db key
MeSH D056660
db key
OMIM 615934
db key
html:p Orphanet 425120
db key
SNOMED CT 711164003
html:p
related-gene-list
Stormorken syndrome https://ghr.nlm.nih.gov/condition/stormorken-syndrome Stormorken syndrome is a rare disorder. Approximately a dozen cases have html:p autosomal dominant STIM1 https://ghr.nlm.nih.gov/gene/STIM1 Stormorken-Sjaastad-Langslet syndrome db key 2014-08 2017-12-29
been reported in the medical literature. thrombocytopathy, asplenia, and miosis GTR C1861451
db key
MeSH D000015
db key
MeSH D013921
db key
OMIM 185070
db key
Orphanet 3204
db key
related-gene-list SNOMED CT 711407000
Sturge-Weber syndrome https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome Sturge-Weber syndrome is estimated to affect 1 in 20,000 to 50,000 html:p not inherited GNAQ https://ghr.nlm.nih.gov/gene/GNAQ angiomatosis aculoorbital-thalamic syndrome db key 2017-02 2017-12-29
individuals. encephalofacial hemangiomatosis GTR C0038505
encephalofacial hemangiomatosis syndrome db key
meningo-oculo-facial angiomatosis ICD-10-CM Q85.8
meningofacial angiomatosis-cerebral calcification syndrome db key
neuroretinoangiomatosis MeSH D013341
html:p phakomatosis, Sturge-Weber db key
Sturge-Weber-Dimitri syndrome OMIM 185300
Sturge-Weber-Krabbe syndrome db key
SWS Orphanet 3205
db key
SNOMED CT 19886006
html:p
html:p
related-gene-list
Stüve-Wiedemann syndrome https://ghr.nlm.nih.gov/condition/stuve-wiedemann-syndrome Stüve-Wiedemann syndrome is a rare condition that has been found worldwide. html:p autosomal recessive LIFR https://ghr.nlm.nih.gov/gene/LIFR neonatal Schwartz-Jampel syndrome db key 2016-04 2017-12-29
Its prevalence is unknown. Schwartz-Jampel type 2 syndrome GTR C0796176
SJS2 db key
Stuve-Wiedemann dysplasia MeSH D010009
Stuve-Wiedemann syndrome db key
Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome OMIM 601559
STWS db key
html:p SWS Orphanet 3206
db key
SNOMED CT 254097005
html:p
html:p
html:p
inheritance-pattern-list related-gene-list
STXBP1 encephalopathy with https://ghr.nlm.nih.gov/condition/stxbp1-encephalopathy-with- The prevalence of STXBP1 encephalopathy with is unknown. At least html:p ad autosomal dominant ghr-page early-infantile epileptic encephalopathy 4 db-key db key 2017-08 2017-12-29
200 individuals with this condition have been described in the medical https://ghr.nlm.nih.gov/gene/STXBP1 EIEE4 GTR C2677326
literature. STXBP1 epileptic encephalopathy db-key db key
STXBP1-related early-onset encephalopathy GeneReviews stxbp1-ee
STXBP1-related epileptic encephalopathy db-key db key
html:p MeSH D001925
db-key db key
MeSH D004831
db-key db key
OMIM 612164
db-key db key
Orphanet 1934
db-key db key
html:p SNOMED CT 230429005
related-gene-list
Succinate-CoA ligase deficiency https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency Although the exact prevalence of succinate-CoA ligase deficiency is html:p autosomal recessive SUCLA2 https://ghr.nlm.nih.gov/gene/SUCLA2 mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild db key 2009-08 2017-12-29
unknown, it appears to be very rare. This condition occurs more frequently among related-gene gene-symbol ghr-page methylmalonic aciduria GTR C2749864
people from the Faroe Islands in the North Atlantic Ocean. SUCLG1 https://ghr.nlm.nih.gov/gene/SUCLG1 mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic db key
aciduria GTR C3151476
succinate-coenzyme A ligase deficiency db key
GeneReviews sucla2-def
db key
html:p GeneReviews suclg1-mtddepl
db key
MeSH D028361
db key
OMIM 245400
db key
OMIM 612073
html:p db key
Orphanet 35698
db key
SNOMED CT 445275003
html:p
related-gene-list
Succinic semialdehyde dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/succinic-semialdehyde-dehydrogenase-deficiency Approximately 350 people with succinic semialdehyde dehydrogenase html:p autosomal recessive ALDH5A1 https://ghr.nlm.nih.gov/gene/ALDH5A1 4-hydroxybutyric aciduria db key 2008-06 2017-12-29
deficiency have been reported worldwide. 4-hydroxybutyricaciduria GTR C0268631
Gamma-hydroxybutyric acidemia db key
gamma-hydroxybutyric aciduria GeneReviews ssadh
SSADH deficiency db key
MeSH D020739
db key
OMIM 271980
db key
Orphanet 22
db key
SNOMED CT 49748000
related-gene-list
Succinyl-CoA:3-ketoacid CoA transferase deficiency https://ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficie The prevalence of SCOT deficiency is unknown. More than 20 cases of this html:p autosomal recessive OXCT1 https://ghr.nlm.nih.gov/gene/OXCT1 3-oxoacid CoA transferase deficiency db key 2011-12 2017-12-29
ncy condition have been reported in the scientific literature. ketoacidosis due to SCOT deficiency GTR C0342792
SCOT deficiency db key
html:p succinyl-CoA 3-oxoacid transferase deficiency MeSH D007662
succinyl-CoA:3-oxoacid CoA transferase deficiency db key
succinyl-CoA:acetoacetate transferase deficiency OMIM 245050
db key
Orphanet 832
db key
SNOMED CT 124366000
html:p db key
SNOMED CT 238004006
related-gene-list
Sudden infant death with dysgenesis of the testes syndrome https://ghr.nlm.nih.gov/condition/sudden-infant-death-with-dysgenesis-of-the-tes SIDDT has been diagnosed in more than 20 infants from a single Old Order html:p autosomal recessive TSPYL1 https://ghr.nlm.nih.gov/gene/TSPYL1 SIDDT db key 2014-12 2017-12-29
tes-syndrome Amish community in Pennsylvania. The condition has not been reported outside GTR C1837371
this community. db key
MeSH D006061
html:p db key
MeSH D013398
db key
OMIM 608800
db key
Orphanet 168593
html:p db key
SNOMED CT 711157000
html:p
related-gene-list
Supravalvular aortic stenosis https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis SVAS occurs in 1 in 20,000 newborns worldwide. html:p autosomal dominant ELN https://ghr.nlm.nih.gov/gene/ELN aortic stenosis, supravalvular db key 2012-05 2017-12-29
stenosis, aortic supravalvular GTR C0003499
stenosis, supravalvular aortic db key
supravalvular stenosis, aortic ICD-10-CM Q25.3
SVAS db key
MeSH D021921
db key
OMIM 185500
db key
Orphanet 3193
html:p db key
SNOMED CT 268185002
related-gene-list
Surfactant dysfunction https://ghr.nlm.nih.gov/condition/surfactant-dysfunction One type of surfactant dysfunction, SP-B deficiency, is estimated to occur html:p autosomal dominant ABCA3 https://ghr.nlm.nih.gov/gene/ABCA3 interstitial lung disease due to surfactant deficiency db key 2017-07 2017-12-29
in 1 in 1 million newborns worldwide. The prevalence of surfactant dysfunction memo related-gene gene-symbol ghr-page pulmonary surfactant metabolism dysfunction GTR C1968602
due to other causes is unknown. autosomal recessive CSF2RA https://ghr.nlm.nih.gov/gene/CSF2RA surfactant metabolism deficiency db key
related-gene gene-symbol ghr-page GTR C1970470
CSF2RB https://ghr.nlm.nih.gov/gene/CSF2RB db key
related-gene gene-symbol ghr-page GTR C2677877
SFTPB https://ghr.nlm.nih.gov/gene/SFTPB db key
related-gene gene-symbol ghr-page GTR C3280574
html:p SFTPC https://ghr.nlm.nih.gov/gene/SFTPC db key
ICD-10-CM J84.83
db key
MeSH D017563
db key
OMIM 265120
html:p db key
OMIM 300770
db key
OMIM 610913
db key
html:p OMIM 614370
db key
Orphanet 100049
db key
Orphanet 217563
db key
related-gene-list SNOMED CT 328641000119109
Swyer syndrome https://ghr.nlm.nih.gov/condition/swyer-syndrome Swyer syndrome occurs in approximately 1 in 80,000 people. html:p autosomal dominant CBX2 https://ghr.nlm.nih.gov/gene/CBX2 46,XY CGD db key 2015-03 2017-12-29
memo related-gene gene-symbol ghr-page 46,XY complete gonadal dysgenesis GTR C1848296
autosomal recessive DHH https://ghr.nlm.nih.gov/gene/DHH 46,XY sex reversal db key
memo related-gene gene-symbol ghr-page gonadal dysgenesis, 46,XY GTR C1856273
html:p not inherited DMRT1 https://ghr.nlm.nih.gov/gene/DMRT1 gonadal dysgenesis, XY female type db key
memo related-gene gene-symbol ghr-page pure gonadal dysgenesis 46,XY GTR C2748896
Y-linked MAP3K1 https://ghr.nlm.nih.gov/gene/MAP3K1 XY pure gonadal dysgenesis db key
related-gene gene-symbol ghr-page GTR C2751317
NR0B1 https://ghr.nlm.nih.gov/gene/NR0B1 db key
related-gene gene-symbol ghr-page GTR C2751824
NR5A1 https://ghr.nlm.nih.gov/gene/NR5A1 db key
html:p related-gene gene-symbol ghr-page GTR C2752149
SOX9 https://ghr.nlm.nih.gov/gene/SOX9 db key
related-gene gene-symbol ghr-page GTR C2936694
SRY https://ghr.nlm.nih.gov/gene/SRY db key
related-gene gene-symbol ghr-page GTR C3151064
ZFPM2 https://ghr.nlm.nih.gov/gene/ZFPM2 db key
html:p GTR C4015129
db key
GTR CN043561
db key
GeneReviews gonad-dys-46xy
db key
ICD-10-CM Q97.3
db key
html:p MeSH D006061
db key
OMIM 154230
db key
OMIM 233420
db key
OMIM 300018
db key
OMIM 400044
db key
OMIM 612965
db key
OMIM 613080
db key
OMIM 613762
db key
OMIM 616067
db key
Orphanet 242
db key
inheritance-pattern-list SNOMED CT 95218005
SYNGAP1-related disability https://ghr.nlm.nih.gov/condition/syngap1-related--disability SYNGAP1-related disability is a relatively common form of html:p ad autosomal dominant gene-symbol synonym mental retardation, autosomal dominant 5 db-key db key 2016-05 2017-12-29
cognitive impairment. It is estimated to account for 1 to 2 percent of SYNGAP1 synonym MRD5 GTR C2675473
disability cases. db-key db key
MeSH D008607
db-key db key
OMIM 612621
-related disability develops , and about half have autism
spectrum disorder.
related-gene-list
Systemic lupus erythematosus https://ghr.nlm.nih.gov/condition/systemic-lupus-erythematosus SLE has been estimated to affect between 322,000 and 1.5 million people in html:p autosomal recessive BANK1 https://ghr.nlm.nih.gov/gene/BANK1 disseminated lupus erythematosus db key 2016-06 2017-12-29
the United States. The exact prevalence is difficult to determine because many memo related-gene gene-symbol ghr-page LE syndrome GTR C1835919
of the signs and symptoms of SLE resemble those of other disorders. Diagnosis not inherited C4A https://ghr.nlm.nih.gov/gene/C4A Libman-Sacks disease db key
may be delayed for years, and the condition may never be diagnosed in some related-gene gene-symbol ghr-page lupus GTR C1835929
affected individuals. Females develop SLE about nine times more often than C4B https://ghr.nlm.nih.gov/gene/C4B SLE db key
males. It is most common in younger women, peaking during the childbearing related-gene gene-symbol ghr-page GTR C1842057
years; however, 20 percent of SLE cases occur in people over age 50.For unknown C4B_2 https://ghr.nlm.nih.gov/gene/C4B_2 db key
reasons, in industrialized Western countries SLE has become 10 times more common related-gene gene-symbol ghr-page GTR C1842755
over the past 50 years. The prevalence of SLE in Africa and Asia is believed to html:p CR2 https://ghr.nlm.nih.gov/gene/CR2 db key
be much lower than in Western nations; however, in industrialized Western related-gene gene-symbol ghr-page GTR C1842756
countries, people of African and Asian descent are two to four times more likely CRP https://ghr.nlm.nih.gov/gene/CRP db key
to develop SLE than are people of European descent. Researchers suggest that related-gene gene-symbol ghr-page GTR C1842757
factors such as ethnic mixing, tobacco use in industrialized countries, and the CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 db key
different types of infections people acquire in different regions may contribute related-gene gene-symbol ghr-page GTR C1846533
to these differences. For example malaria, which occurs often in tropical DNASE1 https://ghr.nlm.nih.gov/gene/DNASE1 db key
regions, is thought to be protective against SLE, while the Epstein-Barr virus, related-gene gene-symbol ghr-page GTR C1854235
more common in the West, increases SLE risk. DNASE1L3 https://ghr.nlm.nih.gov/gene/DNASE1L3 db key
related-gene gene-symbol ghr-page GTR C1854577
FCGR2B https://ghr.nlm.nih.gov/gene/FCGR2B db key
related-gene gene-symbol ghr-page GTR C1864265
IRF5 https://ghr.nlm.nih.gov/gene/IRF5 db key
related-gene gene-symbol ghr-page GTR C1864731
html:p ITGAM https://ghr.nlm.nih.gov/gene/ITGAM db key
related-gene gene-symbol ghr-page GTR C1864732
LTK https://ghr.nlm.nih.gov/gene/LTK db key
related-gene gene-symbol ghr-page GTR C1866373
NCF2 https://ghr.nlm.nih.gov/gene/NCF2 db key
related-gene gene-symbol ghr-page GTR C1970455
PDCD1 https://ghr.nlm.nih.gov/gene/PDCD1 db key
related-gene gene-symbol ghr-page GTR C2676487
PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
related-gene gene-symbol ghr-page GTR C2677095
html:p RASGRP1 https://ghr.nlm.nih.gov/gene/RASGRP1 db key
related-gene gene-symbol ghr-page GTR C2677096
RIPK1 https://ghr.nlm.nih.gov/gene/RIPK1 db key
related-gene gene-symbol ghr-page GTR C2677097
STAT4 https://ghr.nlm.nih.gov/gene/STAT4 db key
related-gene gene-symbol ghr-page GTR C2749008
TLR5 https://ghr.nlm.nih.gov/gene/TLR5 db key
related-gene gene-symbol ghr-page GTR C2751054
TNFAIP3 https://ghr.nlm.nih.gov/gene/TNFAIP3 db key
related-gene gene-symbol ghr-page GTR C3280742
TNFSF4 https://ghr.nlm.nih.gov/gene/TNFSF4 db key
related-gene gene-symbol ghr-page ICD-10-CM M32
TREX1 https://ghr.nlm.nih.gov/gene/TREX1 db key
MeSH D008180
db key
OMIM 152700
db key
OMIM 300809
db key
OMIM 601744
db key
OMIM 605218
db key
OMIM 605480
db key
OMIM 607279
db key
OMIM 607965
db key
OMIM 607966
db key
OMIM 607967
db key
OMIM 608437
db key
OMIM 609903
db key
OMIM 609939
db key
OMIM 610065
db key
OMIM 610066
db key
OMIM 610927
db key
OMIM 612251
db key
OMIM 612253
db key
OMIM 612254
db key
OMIM 612378
db key
OMIM 613145
db key
OMIM 614420
db key
Orphanet 536
db key
related-gene-list SNOMED CT 55464009
Systemic scleroderma https://ghr.nlm.nih.gov/condition/systemic-scleroderma The prevalence of systemic scleroderma is estimated to range from 50 to 300 html:p not inherited BANK1 https://ghr.nlm.nih.gov/gene/BANK1 familial progressive scleroderma db key 2015-04 2017-12-29
cases per 1 million people. For reasons that are unknown, women are four times memo related-gene gene-symbol ghr-page progressive scleroderma GTR C1866983
more likely to develop the condition than men. pattern unknown BLK https://ghr.nlm.nih.gov/gene/BLK systemic sclerosis db key
related-gene gene-symbol ghr-page ICD-10-CM M34
IRF5 https://ghr.nlm.nih.gov/gene/IRF5 db key
related-gene gene-symbol ghr-page ICD-10-CM M34.0
PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
related-gene gene-symbol ghr-page ICD-10-CM M34.1
html:p STAT4 https://ghr.nlm.nih.gov/gene/STAT4 db key
related-gene gene-symbol ghr-page ICD-10-CM M34.8
TNFSF4 https://ghr.nlm.nih.gov/gene/TNFSF4 db key
ICD-10-CM M34.9
db key
ICD-10-CM M34.81
db key
ICD-10-CM M34.82
db key
ICD-10-CM M34.83
db key
html:p ICD-10-CM M34.89
db key
MeSH D012595
db key
OMIM 181750
db key
SNOMED CT 89155008
html:p
html:p
related-gene-list
T-cell immunodeficiency, congenital alopecia, and nail dystrophy https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-an T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare html:p autosomal recessive FOXN1 https://ghr.nlm.nih.gov/gene/FOXN1 alymphoid cystic thymic dysgenesis db key 2014-08 2017-12-29
d-nail-dystrophy disorder. It has been diagnosed in only a few individuals, almost all of whom congenital alopecia and nail dystrophy associated with severe functional T-cell GTR C1866426
are members of a large extended family from a community in southern Italy. immunodeficiency db key
Pignata Guarino syndrome MeSH D016511
winged helix deficiency db key
OMIM 601705
db key
Orphanet 169095
db key
SNOMED CT 720345008
html:p
html:p
related-gene-list
Tangier disease https://ghr.nlm.nih.gov/condition/tangier-disease Tangier disease is a rare disorder with approximately 100 cases identified html:p autosomal recessive ABCA1 https://ghr.nlm.nih.gov/gene/ABCA1 A-alphalipoprotein Neuropathy db key 2010-03 2017-12-29
worldwide. More cases are likely undiagnosed. This condition is named after an alpha High Density Lipoprotein Deficiency Disease GTR C0039292
island off the coast of Virginia where the first affected individuals were Analphalipoproteinemia db key
identified. Cholesterol thesaurismosis MeSH D013631
Familial High Density Lipoprotein Deficiency Disease db key
Familial Hypoalphalipoproteinemia OMIM 205400
HDL Lipoprotein Deficiency Disease db key
Lipoprotein Deficiency Disease, HDL, Familial Orphanet 31150
html:p Tangier Disease Neuropathy db key
Tangier Hereditary Neuropathy SNOMED CT 15346004
related-gene-list
Tarsal-carpal coalition syndrome https://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome This condition is very rare; however, the exact prevalence is unknown. html:p autosomal dominant NOG https://ghr.nlm.nih.gov/gene/NOG NOG-related-symphalangism spectrum disorder db key 2012-04 2017-12-29
TCC GTR C1861305
db key
MeSH D013580
db key
OMIM 186570
db key
html:p Orphanet 1412
db key
SNOMED CT 702312009
synonym-list db-key-list
Task-specific focal dystonia https://ghr.nlm.nih.gov/condition/task-specific-focal-dystonia Task-specific focal dystonia affects an estimated 7 to 69 per million html:p autosomal dominant synonym focal task-specific dystonia key 2017-12-29
people in the general population. Musician's dystonia that is severe enough to synonym FTSD db-key C1969807
impact performance occurs in about 1 percent of musicians. synonym occupational cramp key
synonym occupational dystonia db-key dystonia-ov
synonym task-specific dystonia key
db-key D020821
html:p key
db-key 611284
key
db-key 1866
key
230330004
html:p
html:p
html:p
related-gene-list
Tay-Sachs disease https://ghr.nlm.nih.gov/condition/tay-sachs-disease Tay-Sachs disease is very rare in the general population. The genetic html:p autosomal recessive HEXA https://ghr.nlm.nih.gov/gene/HEXA B variant GM2 gangliosidosis db key 2012-10 2017-12-29
mutations that cause this disease are more common in people of Ashkenazi GM2 gangliosidosis, type 1 GTR C0039373
(eastern and central European) Jewish heritage than in those with other html:p HexA deficiency db key
backgrounds. The mutations responsible for this disease are also more common in Hexosaminidase A deficiency GeneReviews tay-sachs
certain French-Canadian communities of Quebec, the Old Order Amish community in Hexosaminidase alpha-subunit deficiency (variant B) db key
Pennsylvania, and the Cajun population of Louisiana. Sphingolipidosis, Tay-Sachs ICD-10-CM E75.02
TSD db key
MeSH D013661
db key
OMIM 272800
db key
Orphanet 845
html:p db key
SNOMED CT 111385000
related-gene-list
Tetra-amelia syndrome https://ghr.nlm.nih.gov/condition/tetra-amelia-syndrome Tetra-amelia syndrome has been reported in only a few families worldwide. html:p autosomal recessive WNT3 https://ghr.nlm.nih.gov/gene/WNT3 Tetra-amelia db key 2008-02 2017-12-29
Tetra-amelia, autosomal recessive GTR C2749279
db key
GeneReviews tetra-amelia
db key
ICD-10-CM Q73.0
db key
MeSH D000015
db key
MeSH D004480
db key
OMIM 273395
db key
Orphanet 3301
db key
related-gene-list SNOMED CT 702313004
Tetrahydrobiopterin deficiency https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency This condition is rare, affecting an estimated 1 in 500,000 to 1 in 1 html:p autosomal recessive GCH1 https://ghr.nlm.nih.gov/gene/GCH1 BH4 deficiency db key 2011-07 2017-12-29
million newborns. In most parts of the world, tetrahydrobiopterin deficiency related-gene gene-symbol ghr-page hyperphenylalaninemia caused by a defect in biopterin metabolism GTR C0268465
accounts for 1 to 3 percent of all cases of elevated phenylalanine levels. The PCBD1 https://ghr.nlm.nih.gov/gene/PCBD1 hyperphenylalaninemia, non-phenylketonuric db key
remaining cases are caused by a similar condition called phenylketonuria (PKU). related-gene gene-symbol ghr-page non-phenylketonuric hyperphenylalaninemia GTR C0268467
In certain countries, including Saudi Arabia, Taiwan, China, and Turkey, it is PTS https://ghr.nlm.nih.gov/gene/PTS db key
more common for elevated levels of phenylalanine to be caused by related-gene gene-symbol ghr-page GTR C0878676
tetrahydrobiopterin deficiency than by PKU. QDPR https://ghr.nlm.nih.gov/gene/QDPR db key
GTR C1849700
db key
html:p ICD-10-CM E70.1
db key
MeSH D010661
db key
OMIM 233910
db key
OMIM 261630
db key
OMIM 261640
db key
OMIM 264070
db key
Orphanet 13
db key
Orphanet 226
db key
Orphanet 1578
db key
Orphanet 2102
db key
SNOMED CT 23447005
db key
SNOMED CT 237914002
db key
SNOMED CT 276261007
db key
SNOMED CT 45116002
db key
SNOMED CT 58256000
db key
related-gene-list SNOMED CT 68724006
Tetrasomy 18p https://ghr.nlm.nih.gov/condition/tetrasomy-18p Tetrasomy 18p is a rare disorder. It is known to affect about 250 families html:p not inherited 18 https://ghr.nlm.nih.gov/chromosome/18 18p isochromosome db key 2016-04 2017-12-29
worldwide. 18p tetrasomy GTR C0795868
db key
MeSH D025063
db key
html:p Orphanet 3307
db key
SNOMED CT 698849002
html:p
html:p
html:p
related-gene-list
Thanatophoric dysplasia https://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia This condition occurs in 1 in 20,000 to 50,000 newborns. Type I html:p autosomal dominant FGFR3 https://ghr.nlm.nih.gov/gene/FGFR3 Dwarf, thanatophoric db key 2012-10 2017-12-29
thanatophoric dysplasia is more common than type II. thanatophoric dwarfism GTR C1300257
thanatophoric db key
GTR C1868678
db key
html:p GeneReviews td
db key
ICD-10-CM Q77.1
db key
MeSH D013796
html:p db key
OMIM 187600
db key
OMIM 187601
db key
Orphanet 2655
db key
SNOMED CT 29352008
db key
related-gene-list SNOMED CT 389158007
Thiamine-responsive megaloblastic anemia syndrome https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndr Thiamine-responsive megaloblastic anemia syndrome has been reported in html:p autosomal recessive SLC19A2 https://ghr.nlm.nih.gov/gene/SLC19A2 Rogers syndrome db key 2009-02 2017-12-29
ome approximately 30 families worldwide. Its prevalence is unknown. Thiamine-responsive myelodysplasia GTR C0342287
TRMA db key
GeneReviews trma
db key
MeSH D000749
db key
OMIM 249270
db key
Orphanet 49827
html:p db key
SNOMED CT 237617006
html:p
html:p
related-gene-list
Thiopurine S-methyltransferase deficiency https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency Studies suggest that less than 1 percent of individuals in the general html:p autosomal codominant TPMT https://ghr.nlm.nih.gov/gene/TPMT poor metabolism of thiopurines db key 2015-04 2017-12-29
population have TPMT deficiency. Another 11 percent have moderately reduced thiopurine methyltransferase deficiency GTR C0342801
levels of TPMT activity that increase their risk of hematopoietic toxicity with TPMT deficiency db key
thiopurine drug treatment. MeSH D004342
db key
MeSH D011686
db key
OMIM 610460
db key
Orphanet 3315
html:p db key
SNOMED CT 238012003
html:p
html:p
related-gene-list
Thrombocytopenia-absent radius syndrome https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome TAR syndrome is a rare disorder, affecting fewer than 1 in 100,000 html:p autosomal recessive RBM8A https://ghr.nlm.nih.gov/gene/RBM8A chromosome 1q21.1 deletion syndrome, 200-KB db key 2017-02 2017-12-29
newborns. related-chromosome name ghr-page radial aplasia-amegakaryocytic thrombocytopenia GTR C0175703
1 https://ghr.nlm.nih.gov/chromosome/1 radial aplasia-thrombocytopenia syndrome db key
TAR syndrome GeneReviews tar
thrombocytopenia absent radii db key
html:p MeSH D038062
db key
OMIM 274000
db key
Orphanet 3320
db key
SNOMED CT 85589009
html:p
html:p
related-gene-list
Thrombotic thrombocytopenic purpura https://ghr.nlm.nih.gov/condition/thrombotic-thrombocytopenic-purpura The precise incidence of thrombotic thrombocytopenic purpura is unknown. html:p autosomal recessive ADAMTS13 https://ghr.nlm.nih.gov/gene/ADAMTS13 Familial Thrombotic Thrombocytopenia Purpura db key 2008-10 2017-12-29
Researchers estimate that, depending on geographic location, the condition Microangiopathic hemolytic anemia GTR C1268935
affects 1.7 to 11 per million people each year in the United States. For Moschkowitz Disease db key
unknown reasons, the disorder occurs more frequently in women than in men. The Purpura, Thrombotic Thrombocytopenic ICD-10-CM D69.42
acquired form of thrombotic thrombocytopenic purpura is much more common than Thrombotic microangiopathy, familial db key
the familial form. TTP MeSH D011697
db key
html:p OMIM 274150
db key
Orphanet 54057
db key
SNOMED CT 373420004
db key
SNOMED CT 78129009
html:p
html:p
related-gene-list
Tibial muscular dystrophy https://ghr.nlm.nih.gov/condition/tibial-muscular-dystrophy Tibial muscular dystrophy is most common in Finland, where it is estimated html:p autosomal dominant TTN https://ghr.nlm.nih.gov/gene/TTN tardive tibial muscular dystrophy db key 2012-02 2017-12-29
to affect at least 10 per 100,000 people. This condition has also been found in TMD GTR C1838244
people of Finnish descent living in other countries.Additionally, tibial Udd distal myopathy db key
muscular dystrophy has been identified in several European families without Udd-Markesbery muscular dystrophy GeneReviews udd
Finnish ancestry. Udd myopathy db key
MeSH D049310
db key
html:p OMIM 600334
db key
Orphanet 609
db key
SNOMED CT 698846009
html:p
Tietz syndrome https://ghr.nlm.nih.gov/condition/tietz-syndrome Tietz syndrome is a rare disorder; its exact prevalence is unknown. Only a html:p autosomal dominant MITF https://ghr.nlm.nih.gov/gene/MITF albinism and complete nerve deafness db key 2015-12 2017-12-29
few affected families have been described in the medical literature. albinism-deafness of Tietz GTR C0391816
hypopigmentation-deafness syndrome db key
hypopigmentation/deafness of Tietz MeSH D017496
Tietz albinism-deafness syndrome db key
Tietz's syndrome OMIM 103500
db key
Orphanet 42665
html:p db key
SNOMED CT 403805009
related-gene-list
Timothy syndrome https://ghr.nlm.nih.gov/condition/timothy-syndrome Timothy syndrome is a rare condition; fewer than 20 people with this html:p autosomal dominant CACNA1C https://ghr.nlm.nih.gov/gene/CACNA1C Long QT syndrome with syndactyly db key 2008-01 2017-12-29
disorder have been reported worldwide. The classic type of Timothy syndrome LQT8 GTR C1832916
appears to be more common than the atypical type, which has been identified in html:p TS db key
only two individuals. GeneReviews timothy
db key
MeSH D000015
db key
MeSH D008133
db key
MeSH D013576
db key
OMIM 601005
html:p db key
Orphanet 65283
db key
SNOMED CT 699256006
db key
SNOMED CT 719907006
html:p
html:p
inheritance-pattern-list related-gene-list
TK2-related mitochondrial DNA depletion syndrome, myopathic form https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndro The prevalence of TK2-MDS is unknown. Approximately 45 cases have been html:p ar autosomal recessive ghr-page mitochondrial DNA depletion syndrome 2 (myopathic type) db-key db key 2013-09 2017-12-29
me-myopathic-form described. https://ghr.nlm.nih.gov/gene/TK2 MTDPS2 GTR C3149750
html:p TK2-related mitochondrial DNA depletion myopathy db-key db key
GeneReviews tk2-mtddepl
db-key db key
MeSH D017240
html:p db-key db key
OMIM 609560
db-key db key
Orphanet 254875
html:p db-key db key
SNOMED CT 703527003
related-gene-list
Tourette syndrome https://ghr.nlm.nih.gov/condition/tourette-syndrome Although the exact incidence of Tourette syndrome is uncertain, it is html:p pattern unknown SLITRK1 https://ghr.nlm.nih.gov/gene/SLITRK1 Chronic Motor and Vocal Tic Disorder db key 2013-05 2017-12-29
estimated to affect 1 to 10 in 1,000 children. This disorder occurs in Gilles de la Tourette Syndrome GTR C0040517
populations and ethnic groups worldwide, and it is more common in males than in Gilles de la Tourette's syndrome db key
females. GTS ICD-10-CM F95.2
html:p TD db key
Tourette Disorder MeSH D005879
Tourette's Disease db key
TS OMIM 137580
db key
Orphanet 856
html:p db key
SNOMED CT 5158005
html:p
related-gene-list
Townes-Brocks Syndrome https://ghr.nlm.nih.gov/condition/townes-brocks-syndrome The prevalence of this condition is unknown, although one study estimated html:p autosomal dominant SALL1 https://ghr.nlm.nih.gov/gene/SALL1 anal-ear-renal-radial malformation syndrome db key 2007-10 2017-12-29
that it may affect 1 in 250,000 people. It is difficult to determine how deafness-imperforate anus-hypoplastic thumbs syndrome GTR C0265246
frequently Townes-Brocks syndrome occurs because the varied signs and symptoms imperforate anus-hand and foot anomalies syndrome db key
of this disorder overlap with those of other genetic syndromes. renal-ear-anal-radial syndrome (REAR) GeneReviews tbs
sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome db key
html:p Townes syndrome MeSH D000015
db key
MeSH D001006
db key
OMIM 107480
db key
Orphanet 857
db key
related-gene-list SNOMED CT 24750000
Transcobalamin deficiency https://ghr.nlm.nih.gov/condition/transcobalamin-deficiency The prevalence of transcobalamin deficiency is unknown. At least 45 html:p autosomal recessive TCN2 https://ghr.nlm.nih.gov/gene/TCN2 TC deficiency db key 2014-10 2017-12-29
affected individuals have been described in the medical literature. TC II deficiency GTR C0342701
TCN2 deficiency db key
transcobalamin II deficiency ICD-10-CM D51.2
db key
MeSH D008661
db key
OMIM 275350
html:p db key
Orphanet 859
db key
SNOMED CT 237934001
html:p
related-gene-list
Transthyretin amyloidosis https://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis The exact incidence of transthyretin amyloidosis is unknown. In northern html:p autosomal dominant TTR https://ghr.nlm.nih.gov/gene/TTR Portuguese polyneuritic amyloidosis db key 2009-01 2017-12-29
Portugal, the incidence of this condition is thought to be one in 538 people. Portuguese type familial amyloid neuropathy GTR C2751492
Transthyretin amyloidosis is less common among Americans of European descent, Swiss type amyloid polyneuropathy db key
where it is estimated to affect one in 100,000 people. The cardiac form of type I familial amyloid polyneuropathy GeneReviews tfap
transthyretin amyloidosis is more common among people with African ancestry. It type II familial amyloid polyneuropathy db key
is estimated that this form affects between 3 percent and 3.9 percent of African ICD-10-CM E85.1
Americans and approximately 5 percent of people in some areas of West Africa. db key
MeSH D028227
db key
Orphanet 85447
db key
SNOMED CT 398229007
db key
html:p SNOMED CT 4463009
html:p
html:p
html:p
related-gene-list
Treacher Collins syndrome https://ghr.nlm.nih.gov/condition/treacher-collins-syndrome This condition affects an estimated 1 in 50,000 people. html:p autosomal dominant POLR1C https://ghr.nlm.nih.gov/gene/POLR1C Franceschetti-Zwahlen-Klein syndrome db key 2012-06 2017-12-29
related-gene gene-symbol ghr-page mandibulofacial dysostosis (MFD1) GTR C0242387
POLR1D https://ghr.nlm.nih.gov/gene/POLR1D Treacher Collins-Franceschetti syndrome db key
related-gene gene-symbol ghr-page zygoauromandibular dysplasia GTR C1855433
TCOF1 https://ghr.nlm.nih.gov/gene/TCOF1 db key
GTR C3150983
db key
GTR CN119605
html:p db key
GeneReviews tcs
db key
ICD-10-CM Q75.4
db key
MeSH D008342
db key
OMIM 154500
db key
OMIM 248390
db key
OMIM 613717
db key
Orphanet 861
db key
related-gene-list SNOMED CT 82203000
Trichohepatoenteric syndrome https://ghr.nlm.nih.gov/condition/trichohepatoenteric-syndrome Trichohepatoenteric syndrome is a rare condition with an estimated html:p autosomal recessive SKIV2L https://ghr.nlm.nih.gov/gene/SKIV2L diarrhea, fatal infantile, with trichorrhexis nodosa db key 2014-03 2017-12-29
prevalence of about 1 in 1 million people. At least 44 cases have been reported related-gene gene-symbol ghr-page diarrhea, syndromic GTR C1857276
in the medical literature. TTC37 https://ghr.nlm.nih.gov/gene/TTC37 intractable diarrhea with phenotypic anomalies db key
phenotypic diarrhea of infancy GTR C3281289
SD/THE db key
syndromic diarrhea MeSH D003968
THE syndrome db key
THES OMIM 222470
tricho-hepato-enteric syndrome db key
OMIM 614602
html:p db key
Orphanet 84064
db key
SNOMED CT 703406006
html:p
html:p
related-gene-list
Trichorhinophalangeal syndrome type I https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome-type-i TRPS I is a rare condition; its prevalence is unknown. In the Netherlands, html:p autosomal dominant TRPS1 https://ghr.nlm.nih.gov/gene/TRPS1 trichorhinophalangeal dysplasia type I db key 2017-06 2017-12-29
at least 35 people have TRPS I. TRP syndrome GTR C0432233
TRPS I db key
TRPS1 GeneReviews tps
db key
html:p MeSH D015826
db key
OMIM 190350
db key
html:p Orphanet 324764
db key
SNOMED CT 254091006
html:p
related-gene-list
Trichorhinophalangeal syndrome type II https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome-type-ii TRPS II is a rare condition; its prevalence is unknown. html:p autosomal dominant EXT1 https://ghr.nlm.nih.gov/gene/EXT1 chromosome 8q24.1 deletion syndrome db key 2017-06 2017-12-29
related-gene gene-symbol ghr-page Giedion-Langer syndrome GTR C0023003
RAD21 https://ghr.nlm.nih.gov/gene/RAD21 Langer-Giedion syndrome db key
related-gene gene-symbol ghr-page LGS GeneReviews tps
TRPS1 https://ghr.nlm.nih.gov/gene/TRPS1 tricho-rhino-phalangeal syndrome type II db key
html:p related-chromosome name ghr-page trichorhinophalangeal syndrome with exostosis MeSH D015826
8 https://ghr.nlm.nih.gov/chromosome/8 TRPS II db key
TRPS2 OMIM 150230
db key
Orphanet 502
db key
SNOMED CT 41069008
html:p
html:p
html:p
related-gene-list
Trichothiodystrophy https://ghr.nlm.nih.gov/condition/trichothiodystrophy Trichothiodystrophy has an estimated incidence of about 1 in 1 million html:p autosomal recessive ERCC2 https://ghr.nlm.nih.gov/gene/ERCC2 Amish brittle hair syndrome db key 2010-05 2017-12-29
newborns in the United States and Europe. About 100 affected individuals have related-gene gene-symbol ghr-page BIDS syndrome GTR C0740342
been reported worldwide. ERCC3 https://ghr.nlm.nih.gov/gene/ERCC3 brittle hair- impairment-decreased fertility- syndrome db key
related-gene gene-symbol ghr-page IBIDS GTR C1866504
html:p GTF2H5 https://ghr.nlm.nih.gov/gene/GTF2H5 PIBIDS db key
related-gene gene-symbol ghr-page TTD GTR C1961117
MPLKIP https://ghr.nlm.nih.gov/gene/MPLKIP db key
MeSH D054463
html:p db key
OMIM 234050
db key
OMIM 601675
db key
html:p Orphanet 33364
db key
SNOMED CT 254128006
db key
SNOMED CT 403796005
html:p
related-gene-list
Trimethylaminuria https://ghr.nlm.nih.gov/condition/trimethylaminuria Trimethylaminuria is an uncommon genetic disorder; its incidence is html:p autosomal dominant FMO3 https://ghr.nlm.nih.gov/gene/FMO3 fish malodor syndrome db key 2013-01 2017-12-29
unknown. fish odor syndrome GTR C0342739
stale fish syndrome db key
TMAU GeneReviews trimethylaminuria
TMAuria db key
ICD-10-CM E72.52
db key
MeSH D008661
db key
OMIM 602079
db key
Orphanet 35056
db key
related-gene-list SNOMED CT 237959005
Triosephosphate isomerase deficiency https://ghr.nlm.nih.gov/condition/triosephosphate-isomerase-deficiency Triosephosphate isomerase deficiency is likely a rare condition; html:p autosomal recessive TPI1 https://ghr.nlm.nih.gov/gene/TPI1 deficiency of phosphotriose isomerase db key 2014-08 2017-12-29
approximately 40 cases have been reported in the scientific literature. hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase GTR C1860808
deficiency db key
html:p TPI deficiency ICD-10-CM D55.2
TPID db key
triose phosphate isomerase deficiency MeSH D002239
db key
OMIM 615512
db key
Orphanet 868
db key
html:p SNOMED CT 44641000
html:p
html:p
html:p
related-gene-list
Triple A syndrome https://ghr.nlm.nih.gov/condition/triple-a-syndrome Triple A syndrome is a rare condition, although its exact prevalence is html:p autosomal recessive AAAS https://ghr.nlm.nih.gov/gene/AAAS AAA db key 2010-02 2017-12-29
unknown. AAA syndrome GTR C0271742
Achalasia-addisonian syndrome db key
Achalasia-Addisonianism-Alacrima syndrome MeSH D000309
Achalasia-alacrima syndrome db key
Alacrima-achalasia-adrenal insufficiency neurologic disorder MeSH D004931
Allgrove syndrome db key
MeSH D007766
db key
OMIM 231550
db key
Orphanet 869
html:p db key
SNOMED CT 45414006
html:p
html:p
html:p
related-gene-list
Triple X syndrome https://ghr.nlm.nih.gov/condition/triple-x-syndrome This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls html:p not inherited X https://ghr.nlm.nih.gov/chromosome/X 47,XXX db key 2014-06 2017-12-29
with triple X syndrome are born in the United States each day. 47,XXX syndrome GTR C0221033
triplo X syndrome db key
trisomy X ICD-10-CM Q97.0
XXX syndrome db key
html:p MeSH D025064
db key
Orphanet 3375
db key
SNOMED CT 35111009
related-gene-list
Trisomy 13 https://ghr.nlm.nih.gov/condition/trisomy-13 Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age html:p not inherited 13 https://ghr.nlm.nih.gov/chromosome/13 Bartholin-Patau syndrome db key 2013-11 2017-12-29
can have a child with trisomy 13, the chance of having a child with this complete trisomy 13 syndrome GTR C0152095
condition increases as a woman gets older. Patau syndrome db key
Patau's syndrome ICD-10-CM Q91.4
trisomy 13 syndrome db key
ICD-10-CM Q91.5
db key
ICD-10-CM Q91.6
db key
ICD-10-CM Q91.7
db key
MeSH D014314
db key
Orphanet 3378
db key
SNOMED CT 21111006
db key
related-gene-list SNOMED CT 254268004
Trisomy 18 https://ghr.nlm.nih.gov/condition/trisomy-18 Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common html:p not inherited 18 https://ghr.nlm.nih.gov/chromosome/18 complete trisomy 18 syndrome db key 2012-03 2017-12-29
in pregnancy, but many affected fetuses do not survive to term. Although women Edwards syndrome GTR C0152096
of all ages can have a child with trisomy 18, the chance of having a child with trisomy 18 syndrome db key
this condition increases as a woman gets older. trisomy E syndrome ICD-10-CM Q91
db key
ICD-10-CM Q91.0
db key
ICD-10-CM Q91.1
db key
ICD-10-CM Q91.2
db key
ICD-10-CM Q91.3
db key
ICD-10-CM Q91.4
db key
ICD-10-CM Q91.5
db key
ICD-10-CM Q91.6
db key
ICD-10-CM Q91.7
db key
MeSH D014314
db key
Orphanet 3380
db key
SNOMED CT 254266000
db key
related-gene-list SNOMED CT 51500006
TRNT1 deficiency https://ghr.nlm.nih.gov/condition/trnt1-deficiency TRNT1 deficiency is a rare condition; its prevalence is unknown. html:p autosomal recessive TRNT1 https://ghr.nlm.nih.gov/gene/TRNT1 retinitis pigmentosa with erythrocytic microcytosis db key 2017-12 2017-12-29
Approximately 20 affected individuals have been described in the medical RPEM GTR C4015172
literature. sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and db key
html:p developmental delay GTR C4310776
SIFD db key
TRNT1 enzyme deficiency MeSH D000756
TRNT1-related immunodeficiency db key
TRNT1-related immunodeficiency+ MeSH D012174
db key
OMIM 616084
html:p db key
OMIM 616959
db key
Orphanet 1047
html:p
html:p
html:p
html:p
html:p
related-gene-list
Troyer syndrome https://ghr.nlm.nih.gov/condition/troyer-syndrome About 20 cases of Troyer syndrome have been reported in the Old Order Amish html:p autosomal recessive SPART https://ghr.nlm.nih.gov/gene/SPART Autosomal Recessive Hereditary Spastic Paraplegia db key 2008-01 2017-12-29
population of Ohio. It has not been found outside this population. Cross-McKusick syndrome GTR C0393559
Hereditary Spastic Paraplegia db key
spastic paraparesis, childhood-onset, with distal muscle wasting GeneReviews hsp
spastic paraplegia 20, autosomal recessive db key
spastic paraplegia, autosomal recessive, Troyer type GeneReviews spg20
SPG20 db key
ICD-10-CM G11.4
db key
MeSH D010264
html:p db key
MeSH D015419
db key
OMIM 275900
db key
Orphanet 685
db key
SNOMED CT 230264003
html:p
inheritance-pattern-list related-gene-list
TUBB4A-related leukodystrophy https://ghr.nlm.nih.gov/condition/tubb4a-related-leukodystrophy TUBB4A-related leukodystrophy is a rare disorder, although the exact html:p ad autosomal dominant ghr-page TUBB4A-associated hypomyelinating leukoencephalopathies db-key db key 2017-08 2017-12-29
prevalence of the condition is unknown. At least 70 affected individuals have https://ghr.nlm.nih.gov/gene/TUBB4A TUBB4A-related hypomyelinating leukodystrophy GTR C2676244
been described in the medical literature. db-key db key
GeneReviews tubb4a-leuk
db-key db key
MeSH D020279
db-key db key
html:p OMIM 612438
html:p
html:p
html:p
html:p
related-gene-list
Tuberous sclerosis complex https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex Tuberous sclerosis complex affects about 1 in 6,000 people. html:p autosomal dominant TSC1 https://ghr.nlm.nih.gov/gene/TSC1 Bourneville disease db key 2017-02 2017-12-29
related-gene gene-symbol ghr-page Bourneville phakomatosis GTR C0041341
TSC2 https://ghr.nlm.nih.gov/gene/TSC2 cerebral sclerosis db key
epiloia GTR C1854465
sclerosis tuberosa db key
tuberose sclerosis GTR C1860707
html:p db key
GeneReviews tuberous-sclerosis
db key
ICD-10-CM Q85.1
html:p db key
MeSH D014402
db key
OMIM 191100
db key
Orphanet 805
db key
html:p SNOMED CT 36025004
db key
SNOMED CT 7199000
related-gene-list
Tubular aggregate myopathy https://ghr.nlm.nih.gov/condition/tubular-aggregate-myopathy Tubular aggregate myopathy is a rare disorder. Its prevalence is unknown. html:p autosomal dominant ORAI1 https://ghr.nlm.nih.gov/gene/ORAI1 myopathy with tubular aggregates db key 2017-03 2017-12-29
memo related-gene gene-symbol ghr-page TAM GTR C0410207
autosomal recessive STIM1 https://ghr.nlm.nih.gov/gene/STIM1 db key
MeSH D020914
db key
OMIM 160565
db key
Orphanet 2593
html:p db key
SNOMED CT 240087000
related-gene-list
Tumor necrosis factor receptor-associated periodic syndrome https://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-peri TRAPS has an estimated prevalence of one per million individuals; it is the html:p autosomal dominant TNFRSF1A https://ghr.nlm.nih.gov/gene/TNFRSF1A autosomal dominant familial periodic fever db key 2016-02 2017-12-29
odic-syndrome second most common inherited recurrent fever syndrome, following a similar familial Hibernian fever GTR C1275126
condition called familial Mediterranean fever. More than 1,000 people worldwide FPF db key
have been diagnosed with TRAPS. TNF receptor-associated periodic fever syndrome MeSH D056660
TRAPS db key
OMIM 142680
db key
Orphanet 32960
html:p db key
SNOMED CT 403833009
html:p
related-gene-list
Turner syndrome https://ghr.nlm.nih.gov/condition/turner-syndrome This condition occurs in about 1 in 2,500 newborn girls worldwide, but it html:p not inherited SHOX https://ghr.nlm.nih.gov/gene/SHOX 45,X db key 2017-10 2017-12-29
is much more common among pregnancies that do not survive to term (miscarriages related-chromosome name ghr-page monosomy X GTR C0041408
and stillbirths). X https://ghr.nlm.nih.gov/chromosome/X TS db key
Turner's syndrome ICD-10-CM Q96
Ullrich-Turner syndrome db key
ICD-10-CM Q96.0
db key
ICD-10-CM Q96.1
db key
html:p ICD-10-CM Q96.2
db key
ICD-10-CM Q96.3
db key
ICD-10-CM Q96.4
db key
ICD-10-CM Q96.8
db key
html:p ICD-10-CM Q96.9
db key
MeSH D014424
db key
Orphanet 881
db key
related-gene-list SNOMED CT 38804009
Type 1 diabetes https://ghr.nlm.nih.gov/condition/type-1-diabetes Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the html:p pattern unknown CCR5 https://ghr.nlm.nih.gov/gene/CCR5 autoimmune diabetes db key 2013-03 2017-12-29
United States. By age 18, approximately 1 in 300 people in the United States related-gene gene-symbol ghr-page diabetes mellitus type 1 GTR C0011854
develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, CTLA4 https://ghr.nlm.nih.gov/gene/CTLA4 diabetes mellitus, insulin-dependent db key
the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less related-gene gene-symbol ghr-page diabetes mellitus, type 1 GTR C1832392
frequently in Asia and South America, with reported incidences as low as 1 in 1 FOXP3 https://ghr.nlm.nih.gov/gene/FOXP3 IDDM db key
million per year. For unknown reasons, during the past 20 years the worldwide related-gene gene-symbol ghr-page insulin-dependent diabetes mellitus GTR C1832474
incidence of type 1 diabetes has been increasing by 2 to 5 percent each html:p HLA-DQA1 https://ghr.nlm.nih.gov/gene/HLA-DQA1 JOD db key
year.Type 1 diabetes accounts for 5 to 10 percent of cases of diabetes related-gene gene-symbol ghr-page juvenile diabetes GTR C1832605
worldwide. Most people with diabetes have type 2 diabetes, in which the body HLA-DQB1 https://ghr.nlm.nih.gov/gene/HLA-DQB1 juvenile-onset diabetes db key
continues to produce insulin but becomes less able to use it. related-gene gene-symbol ghr-page juvenile-onset diabetes mellitus GTR C1833218
HLA-DRB1 https://ghr.nlm.nih.gov/gene/HLA-DRB1 T1D db key
related-gene gene-symbol ghr-page type 1 diabetes mellitus GTR C1838259
HNF1A https://ghr.nlm.nih.gov/gene/HNF1A db key
related-gene gene-symbol ghr-page GTR C1838260
IL2RA https://ghr.nlm.nih.gov/gene/IL2RA db key
related-gene gene-symbol ghr-page GTR C1838261
html:p IL6 https://ghr.nlm.nih.gov/gene/IL6 db key
related-gene gene-symbol ghr-page GTR C1838262
INS https://ghr.nlm.nih.gov/gene/INS db key
related-gene gene-symbol ghr-page GTR C1848042
ITPR3 https://ghr.nlm.nih.gov/gene/ITPR3 db key
related-gene gene-symbol ghr-page GTR C1852092
OAS1 https://ghr.nlm.nih.gov/gene/OAS1 db key
related-gene gene-symbol ghr-page GTR C1854125
PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
related-gene gene-symbol ghr-page GTR C1857808
SUMO4 https://ghr.nlm.nih.gov/gene/SUMO4 db key
html:p GTR C1864068
db key
GTR C1866040
db key
GTR C1866041
db key
GTR C1866519
db key
GTR C2675472
db key
GTR C2675864
db key
GTR C2675865
db key
GTR C2751697
db key
ICD-10-CM E10
db key
ICD-10-CM E10.1
db key
ICD-10-CM E10.2
db key
ICD-10-CM E10.3
db key
ICD-10-CM E10.4
db key
ICD-10-CM E10.5
db key
ICD-10-CM E10.6
db key
ICD-10-CM E10.8
db key
ICD-10-CM E10.9
db key
ICD-10-CM E10.10
db key
ICD-10-CM E10.11
db key
ICD-10-CM E10.21
db key
ICD-10-CM E10.22
db key
ICD-10-CM E10.29
db key
ICD-10-CM E10.31
db key
ICD-10-CM E10.32
db key
ICD-10-CM E10.33
db key
ICD-10-CM E10.34
db key
ICD-10-CM E10.35
db key
ICD-10-CM E10.36
db key
ICD-10-CM E10.39
db key
ICD-10-CM E10.40
db key
ICD-10-CM E10.41
db key
ICD-10-CM E10.42
db key
ICD-10-CM E10.43
db key
ICD-10-CM E10.44
db key
ICD-10-CM E10.49
db key
ICD-10-CM E10.51
db key
ICD-10-CM E10.52
db key
ICD-10-CM E10.59
db key
ICD-10-CM E10.61
db key
ICD-10-CM E10.62
db key
ICD-10-CM E10.63
db key
ICD-10-CM E10.64
db key
ICD-10-CM E10.65
db key
ICD-10-CM E10.69
db key
ICD-10-CM E10.311
db key
ICD-10-CM E10.319
db key
ICD-10-CM E10.321
db key
ICD-10-CM E10.329
db key
ICD-10-CM E10.331
db key
ICD-10-CM E10.339
db key
ICD-10-CM E10.341
db key
ICD-10-CM E10.349
db key
ICD-10-CM E10.351
db key
ICD-10-CM E10.359
db key
ICD-10-CM E10.610
db key
ICD-10-CM E10.618
db key
ICD-10-CM E10.620
db key
ICD-10-CM E10.621
db key
ICD-10-CM E10.622
db key
ICD-10-CM E10.628
db key
ICD-10-CM E10.630
db key
ICD-10-CM E10.638
db key
ICD-10-CM E10.641
db key
ICD-10-CM E10.649
db key
ICD-10-CM O24.01
db key
ICD-10-CM O24.011
db key
ICD-10-CM O24.012
db key
ICD-10-CM O24.013
db key
ICD-10-CM O24.019
db key
MeSH D003922
db key
OMIM 125852
db key
OMIM 222100
db key
OMIM 300136
db key
OMIM 600318
db key
OMIM 600319
db key
OMIM 600320
db key
OMIM 600321
db key
OMIM 600883
db key
OMIM 601208
db key
OMIM 601318
db key
OMIM 601388
db key
OMIM 601666
db key
OMIM 601941
db key
OMIM 601942
db key
OMIM 603266
db key
OMIM 605598
db key
OMIM 610155
db key
OMIM 612520
db key
OMIM 612521
db key
OMIM 612522
db key
OMIM 612622
db key
OMIM 613006
db key
Orphanet 181371
db key
Orphanet 243377
db key
synonym-list db-key-list SNOMED CT 46635009
Type 2 diabetes https://ghr.nlm.nih.gov/condition/type-2-diabetes Type 2 diabetes is the most common type of diabetes, accounting for 90 to html:p pattern unknown synonym adult-onset diabetes mellitus key 2017-12-29
95 percent of all cases. In 2015, more than 23 million people in the United synonym AODM db-key C0011860
States had diagnosed diabetes and an additional 7 million people likely had synonym diabetes mellitus, adult-onset key
undiagnosed diabetes. The prevalence of diabetes increases with age, and the synonym diabetes mellitus, non-insulin-dependent db-key E11
disease currently affects more than 20 percent of Americans over age 65. It is synonym diabetes mellitus, type 2 key
the seventh leading cause of death in the United States.The risk of diabetes synonym diabetes mellitus, type II db-key E11.0
varies by ethnic and geographic background. In the United States, the disease is synonym maturity-onset diabetes key
most common in Native Americans and Alaska Natives. It also has a higher synonym maturity-onset diabetes mellitus db-key E11.00
prevalence among people of African American or Hispanic ancestry than those of html:p synonym NIDDM key
non-Hispanic white or Asian ancestry. Geographically, diabetes is most prevalent synonym noninsulin-dependent diabetes mellitus db-key E11.01
in the southern and Appalachian regions of the United States.The prevalence of synonym T2D key
diabetes is rapidly increasing worldwide. Due to an increase in inactive synonym type 2 diabetes mellitus db-key E11.2
(sedentary) lifestyles, obesity, and other risk factors, the frequency of this key
disease has more than quadrupled in the past 35 years. db-key E11.3
key
db-key E11.4
key
db-key E11.5
html:p key
db-key E11.6
key
db-key E11.8
key
db-key E11.9
key
db-key E11.21
key
db-key E11.22
key
db-key E11.29
key
db-key E11.31
key
db-key E11.32
key
db-key E11.33
key
db-key E11.34
key
db-key E11.35
key
db-key E11.36
key
db-key E11.37
key
db-key E11.39
key
db-key E11.40
key
db-key E11.41
key
db-key E11.42
key
db-key E11.43
key
db-key E11.44
key
db-key E11.49
key
db-key E11.51
key
db-key E11.52
key
db-key E11.59
key
db-key E11.61
key
db-key E11.62
key
db-key E11.63
key
db-key E11.64
key
db-key E11.65
key
db-key E11.69
key
db-key E11.311
key
db-key E11.319
key
db-key E11.321
key
db-key E11.329
key
db-key E11.331
key
db-key E11.339
key
db-key E11.341
key
db-key E11.349
key
db-key E11.351
key
db-key E11.352
key
db-key E11.353
key
db-key E11.354
key
db-key E11.355
key
db-key E11.359
key
db-key E11.610
key
db-key E11.618
key
db-key E11.620
key
db-key E11.621
key
db-key E11.622
key
db-key E11.628
key
db-key E11.630
key
db-key E11.638
key
db-key E11.641
key
db-key E11.649
key
db-key D003924
key
db-key 125853
key
related-gene-list 44054006
Type A insulin resistance syndrome https://ghr.nlm.nih.gov/condition/type-a-insulin-resistance-syndrome Type A insulin resistance syndrome is estimated to affect about 1 in html:p autosomal dominant INSR https://ghr.nlm.nih.gov/gene/INSR diabetes mellitus, insulin-resistant, with acanthosis nigricans db key 2014-12 2017-12-29
100,000 people worldwide. Because females have more health problems associated memo extreme insulin resistance with acanthosis nigricans, hirsutism and abnormal GTR C0271690
with the condition, it is diagnosed more often in females than in males. autosomal recessive insulin receptors db key
insulin-resistance syndrome type A MeSH D000052
insulin resistance syndrome, type A db key
insulin resistance - type A MeSH D007333
insulin-resistant diabetes mellitus and acanthosis nigricans db key
type A insulin resistance OMIM 610549
html:p db key
Orphanet 2297
db key
SNOMED CT 237651005
db key
SNOMED CT 24203005
html:p
html:p
related-gene-list
Tyrosine hydroxylase deficiency https://ghr.nlm.nih.gov/condition/tyrosine-hydroxylase-deficiency The prevalence of TH deficiency is unknown. html:p autosomal recessive TH https://ghr.nlm.nih.gov/gene/TH autosomal recessive infantile parkinsonism db key 2009-04 2017-12-29
Segawa syndrome, autosomal recessive GTR C1854299
html:p TH deficiency db key
TH-deficient DRD GeneReviews thdrd
db key
MeSH D020734
db key
OMIM 605407
db key
html:p Orphanet 101150
db key
SNOMED CT 715827001
html:p
html:p
related-gene-list
Tyrosinemia https://ghr.nlm.nih.gov/condition/tyrosinemia Worldwide, tyrosinemia type I affects about 1 in 100,000 individuals. This html:p autosomal recessive FAH https://ghr.nlm.nih.gov/gene/FAH hereditary tyrosinemia db key 2015-08 2017-12-29
type is more common in Norway where 1 in 60,000 to 74,000 individuals are related-gene gene-symbol ghr-page hypertyrosinaemia GTR C0268487
affected. Tyrosinemia type I is even more common in Quebec, Canada where it HPD https://ghr.nlm.nih.gov/gene/HPD hypertyrosinemia db key
occurs in about 1 in 16,000 individuals. In the Saguenay-Lac St. Jean region of related-gene gene-symbol ghr-page tyrosinaemia GTR C0268490
Quebec, tyrosinemia type I affects 1 in 1,846 people.Tyrosinemia type II occurs html:p TAT https://ghr.nlm.nih.gov/gene/TAT db key
in fewer than 1 in 250,000 individuals worldwide. Tyrosinemia type III is very GTR C0268623
rare; only a few cases have been reported. db key
GeneReviews tyrosinemia
db key
ICD-10-CM E70.21
db key
MeSH D020176
db key
OMIM 276600
db key
OMIM 276700
db key
OMIM 276710
db key
html:p Orphanet 882
db key
Orphanet 28378
db key
SNOMED CT 124287008
db key
html:p SNOMED CT 124536006
db key
SNOMED CT 190694001
html:p db key
SNOMED CT 271847005
db key
SNOMED CT 27373000
db key
SNOMED CT 410056006
db key
SNOMED CT 413356003
db key
SNOMED CT 415764005
db key
SNOMED CT 4887000
db key
SNOMED CT 52452006
db key
SNOMED CT 56595005
db key
related-gene-list SNOMED CT 75387001
Ulcerative colitis https://ghr.nlm.nih.gov/condition/ulcerative-colitis Ulcerative colitis is most common in North America and Western Europe; html:p pattern unknown ABCB1 https://ghr.nlm.nih.gov/gene/ABCB1 colitis gravis db key 2016-01 2017-12-29
however the prevalence is increasing in other regions. In North America, related-gene gene-symbol ghr-page idiopathic proctocolitis GTR C0678202
ulcerative colitis affects approximately 40 to 240 in 100,000 people. It is IL10RA https://ghr.nlm.nih.gov/gene/IL10RA inflammatory bowel disease, ulcerative colitis type db key
estimated that more than 750,000 North Americans are affected by this disorder. related-gene gene-symbol ghr-page UC ICD-10-CM K51
Ulcerative colitis is more common in whites and people of eastern and central IL10RB https://ghr.nlm.nih.gov/gene/IL10RB db key
European (Ashkenazi) Jewish descent than among people of other ethnic related-gene gene-symbol ghr-page ICD-10-CM K51.0
backgrounds. IL23R https://ghr.nlm.nih.gov/gene/IL23R db key
html:p related-gene gene-symbol ghr-page ICD-10-CM K51.00
IRF5 https://ghr.nlm.nih.gov/gene/IRF5 db key
related-gene gene-symbol ghr-page ICD-10-CM K51.01
PTPN2 https://ghr.nlm.nih.gov/gene/PTPN2 db key
ICD-10-CM K51.2
db key
ICD-10-CM K51.3
db key
ICD-10-CM K51.5
db key
html:p ICD-10-CM K51.8
db key
ICD-10-CM K51.9
db key
ICD-10-CM K51.011
html:p db key
ICD-10-CM K51.012
db key
ICD-10-CM K51.013
db key
ICD-10-CM K51.014
db key
ICD-10-CM K51.018
db key
ICD-10-CM K51.019
db key
ICD-10-CM K51.20
db key
ICD-10-CM K51.21
db key
ICD-10-CM K51.30
db key
ICD-10-CM K51.31
db key
ICD-10-CM K51.50
db key
ICD-10-CM K51.51
db key
ICD-10-CM K51.80
db key
ICD-10-CM K51.81
db key
ICD-10-CM K51.90
db key
ICD-10-CM K51.91
db key
ICD-10-CM K51.211
db key
ICD-10-CM K51.212
db key
ICD-10-CM K51.213
db key
ICD-10-CM K51.214
db key
ICD-10-CM K51.218
db key
ICD-10-CM K51.219
db key
ICD-10-CM K51.311
db key
ICD-10-CM K51.312
db key
ICD-10-CM K51.313
db key
ICD-10-CM K51.314
db key
ICD-10-CM K51.318
db key
ICD-10-CM K51.319
db key
ICD-10-CM K51.511
db key
ICD-10-CM K51.512
db key
ICD-10-CM K51.513
db key
ICD-10-CM K51.514
db key
ICD-10-CM K51.518
db key
ICD-10-CM K51.519
db key
ICD-10-CM K51.811
db key
ICD-10-CM K51.812
db key
ICD-10-CM K51.813
db key
ICD-10-CM K51.814
db key
ICD-10-CM K51.818
db key
ICD-10-CM K51.819
db key
ICD-10-CM K51.911
db key
ICD-10-CM K51.912
db key
ICD-10-CM K51.913
db key
ICD-10-CM K51.914
db key
ICD-10-CM K51.918
db key
ICD-10-CM K51.919
db key
MeSH D003093
db key
OMIM 266600
db key
Orphanet 771
db key
related-gene-list SNOMED CT 64766004
UNC80 deficiency https://ghr.nlm.nih.gov/condition/unc80-deficiency The prevalence of UNC80 deficiency is unknown. At least 19 affected html:p autosomal recessive UNC80 https://ghr.nlm.nih.gov/gene/UNC80 IHPRF2 db key 2017-12 2017-12-29
individuals have been described in the medical literature. infantile with psychomotor retardation and characteristic facies-2 GTR C4225203
db key
GeneReviews unc80-def
db key
html:p MeSH D001927
db key
MeSH D053447
db key
OMIM 616801
html:p
related-gene-list
Uncombable hair syndrome https://ghr.nlm.nih.gov/condition/uncombable-hair-syndrome The prevalence of uncombable hair syndrome is unknown; at least 100 cases html:p autosomal dominant PADI3 https://ghr.nlm.nih.gov/gene/PADI3 cheveux incoiffables db key 2017-05 2017-12-29
have been described in the scientific literature. There are likely more people memo related-gene gene-symbol ghr-page pili trianguli et canaliculi GTR C0432347
who are undiagnosed because adults who seem unaffected may have had uncombable autosomal recessive TCHH https://ghr.nlm.nih.gov/gene/TCHH spun glass hair db key
hair syndrome in childhood. related-gene gene-symbol ghr-page UHS MeSH D006201
TGM3 https://ghr.nlm.nih.gov/gene/TGM3 unmanageable hair syndrome db key
OMIM 191480
db key
OMIM 617251
html:p db key
OMIM 617252
db key
Orphanet 1410
db key
related-gene-list SNOMED CT 254230001
Unverricht-Lundborg disease https://ghr.nlm.nih.gov/condition/unverricht-lundborg-disease Progressive myoclonus is a rare condition. Unverricht-Lundborg html:p autosomal recessive CSTB https://ghr.nlm.nih.gov/gene/CSTB Baltic myoclonic db key 2008-06 2017-12-29
disease is believed to be the most common cause of this type of , but Baltic myoclonus GTR C0751785
its worldwide prevalence is unknown. Unverricht-Lundborg disease occurs most Baltic myoclonus db key
frequently in Finland, where approximately 4 in 100,000 people are affected. html:p EPM1 GeneReviews epm1
Lundborg-Unverricht syndrome db key
Mediterranean myoclonic MeSH D020194
myoclonic of Unverricht and Lundborg db key
PME OMIM 254800
progressive myoclonic db key
html:p progressive myoclonus 1 Orphanet 308
ULD db key
Unverricht-Lundborg syndrome SNOMED CT 230423006
html:p
html:p
related-gene-list
Uromodulin-associated kidney disease https://ghr.nlm.nih.gov/condition/uromodulin-associated-kidney-disease The prevalence of uromodulin-associated kidney disease is unknown. It html:p autosomal dominant UMOD https://ghr.nlm.nih.gov/gene/UMOD Familial gout-kidney disease db key 2009-12 2017-12-29
accounts for fewer than 1 percent of cases of kidney disease. Familial gouty nephropathy GTR C0268113
Familial juvenile hyperuricemic nephropathy db key
html:p FJHN GTR C1835934
MCKD2 db key
Medullary cystic kidney disease type 2 GTR C1859040
UMAK db key
UMOD-related kidney disease GeneReviews mckd2
Uromodulin storage disease db key
MeSH D007674
html:p db key
OMIM 162000
db key
OMIM 603860
db key
OMIM 609886
db key
Orphanet 34149
db key
SNOMED CT 445503007
db key
related-gene-list SNOMED CT 46785007
Usher syndrome https://ghr.nlm.nih.gov/condition/usher-syndrome Types I and II are the most common forms of Usher syndrome in most html:p autosomal recessive ADGRV1 https://ghr.nlm.nih.gov/gene/ADGRV1 deafness-retinitis pigmentosa syndrome db key 2017-11 2017-12-29
countries. Certain genetic mutations resulting in type 1 Usher syndrome are more related-gene gene-symbol ghr-page Graefe-Usher syndrome GTR C0271097
common among people of Ashkenazi (eastern and central European) Jewish or CDH23 https://ghr.nlm.nih.gov/gene/CDH23 Hallgren syndrome db key
French Acadian heritage than in the general population.Type III represents only related-gene gene-symbol ghr-page retinitis pigmentosa-deafness syndrome GTR C0339534
about 2 percent of all Usher syndrome cases overall. However, type III occurs CIB2 https://ghr.nlm.nih.gov/gene/CIB2 Usher's syndrome db key
more frequently in the Finnish population, where it accounts for about 40 related-gene gene-symbol ghr-page GTR C1568247
percent of cases, and among people of Ashkenazi Jewish heritage. CLRN1 https://ghr.nlm.nih.gov/gene/CLRN1 db key
related-gene gene-symbol ghr-page GTR C1568248
HARS https://ghr.nlm.nih.gov/gene/HARS db key
related-gene gene-symbol ghr-page GTR C1568249
MYO7A https://ghr.nlm.nih.gov/gene/MYO7A db key
html:p related-gene gene-symbol ghr-page GTR C1832845
PCDH15 https://ghr.nlm.nih.gov/gene/PCDH15 db key
related-gene gene-symbol ghr-page GTR C1847089
USH1C https://ghr.nlm.nih.gov/gene/USH1C db key
related-gene gene-symbol ghr-page GTR C1848604
html:p USH1G https://ghr.nlm.nih.gov/gene/USH1G db key
related-gene gene-symbol ghr-page GTR C1848634
USH2A https://ghr.nlm.nih.gov/gene/USH2A db key
related-gene gene-symbol ghr-page GTR C1848638
WHRN https://ghr.nlm.nih.gov/gene/WHRN db key
GTR C1854237
db key
GTR C1865865
html:p db key
GTR C1865885
db key
GTR C2675458
db key
GTR C3148929
db key
GTR C3281066
db key
html:p GTR C3539124
db key
GTR C3553944
db key
GTR CN121478
db key
GeneReviews usher1
db key
GeneReviews usher2
db key
MeSH D052245
db key
OMIM 276900
db key
OMIM 276901
db key
OMIM 276902
db key
OMIM 276904
db key
OMIM 601067
db key
OMIM 602083
db key
OMIM 602097
db key
OMIM 605472
db key
OMIM 606943
db key
OMIM 611383
db key
OMIM 612632
db key
OMIM 614504
db key
OMIM 614869
db key
OMIM 614990
db key
Orphanet 886
db key
SNOMED CT 232057003
db key
SNOMED CT 57838006
db key
related-gene-list SNOMED CT 73119000
UV-sensitive syndrome https://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome UV-sensitive syndrome appears to be a rare condition; only a small number html:p autosomal recessive ERCC6 https://ghr.nlm.nih.gov/gene/ERCC6 ultraviolet sensitive syndrome db key 2012-07 2017-12-29
of affected individuals have been reported in the scientific literature. related-gene gene-symbol ghr-page UVSS GTR C1833561
However, this condition may be underdiagnosed. ERCC8 https://ghr.nlm.nih.gov/gene/ERCC8 db key
related-gene gene-symbol ghr-page GTR C3553298
UVSSA https://ghr.nlm.nih.gov/gene/UVSSA db key
GTR C3553328
db key
MeSH D010787
db key
OMIM 600630
db key
OMIM 614621
db key
OMIM 614640
db key
Orphanet 178338
db key
synonym-list db-key-list SNOMED CT 698253007
VACTERL association https://ghr.nlm.nih.gov/condition/vacterl-association VACTERL association occurs in 1 in 10,000 to 40,000 newborns. html:p pattern unknown key 2017-12-29
db-key C1735591
key
db-key D000015
key
db-key 192350
html:p key
db-key 887
key
db-key 27742002
key
431395004
html:p
related-gene-list
Van der Woude syndrome https://ghr.nlm.nih.gov/condition/van-der-woude-syndrome Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 html:p autosomal dominant IRF6 https://ghr.nlm.nih.gov/gene/IRF6 cleft lip and/or palate with mucous cysts of lower lip db key 2008-04 2017-12-29
people, based on data from Europe and Asia. Van der Woude syndrome is the most lip-pit syndrome GTR C0175697
common cause of cleft lip and palate resulting from variations in a single gene, VDWS db key
and this condition accounts for approximately 1 in 50 such cases. VWS GeneReviews vws
db key
MeSH D019465
db key
html:p OMIM 119300
db key
Orphanet 888
db key
SNOMED CT 79261008
related-gene-list
Very long-chain acyl-CoA dehydrogenase deficiency https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficie VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people. html:p autosomal recessive ACADVL https://ghr.nlm.nih.gov/gene/ACADVL ACADVL db key 2009-11 2017-12-29
ncy acyl-CoA dehydrogenase very long chain deficiency GTR C3887523
very long-chain acyl coenzyme A dehydrogenase deficiency db key
html:p very long-chain acyl-coenzyme A dehydrogenase deficiency GeneReviews vlcad
VLCAD-C db key
VLCAD deficiency ICD-10-CM E71.310
VLCAD-H db key
MeSH D008052
db key
html:p OMIM 201475
db key
Orphanet 26793
db key
SNOMED CT 237997005
related-gene-list
Vibratory urticaria https://ghr.nlm.nih.gov/condition/vibratory-urticaria Vibratory urticaria is a rare disorder; its prevalence is unknown. It html:p autosomal dominant ADGRE2 https://ghr.nlm.nih.gov/gene/ADGRE2 DDU db key 2016-07 2017-12-29
belongs to a class of disorders called physical urticarias in which allergy dermodistortive urticaria GTR C0473546
symptoms are brought on by direct exposure to factors such as pressure, heat, VBU db key
cold, or sunlight. Physical urticarias have been estimated to occur in up to 5 vibratory angioedema GTR C1852146
per 1,000 people. db key
ICD-10-CM L50.4
db key
MeSH D000799
db key
MeSH D014581
db key
OMIM 125630
db key
related-gene-list SNOMED CT 51247001
Vitamin D-dependent rickets https://ghr.nlm.nih.gov/condition/vitamin-d-dependent-rickets Rickets affects an estimated 1 in 200,000 children. The condition is most html:p autosomal dominant CYP2R1 https://ghr.nlm.nih.gov/gene/CYP2R1 VDDR db key 2017-12 2017-12-29
often caused by a lack of vitamin D in the diet or insufficient sun exposure memo related-gene gene-symbol ghr-page GTR C0268689
rather than genetic mutations. Genetic forms of rickets, including vitamin autosomal recessive CYP27B1 https://ghr.nlm.nih.gov/gene/CYP27B1 db key
D-dependent rickets, are much less common. The prevalence of the different types related-gene gene-symbol ghr-page GTR C0268690
of vitamin D-dependent rickets is unknown. VDDR1A is more common in the French VDR https://ghr.nlm.nih.gov/gene/VDR db key
Canadian population than in other populations. GTR C2748783
html:p db key
MeSH D012279
db key
OMIM 264700
db key
OMIM 277440
db key
OMIM 600081
db key
OMIM 600785
html:p db key
Orphanet 289157
db key
Orphanet 93160
db key
SNOMED CT 68295002
html:p
related-gene-list
Vitelliform macular dystrophy https://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy Vitelliform macular dystrophy is a rare disorder; its incidence is unknown. html:p autosomal dominant BEST1 https://ghr.nlm.nih.gov/gene/BEST1 vitelliform dystrophy db key 2013-12 2017-12-29
related-gene gene-symbol ghr-page GTR C0339510
PRPH2 https://ghr.nlm.nih.gov/gene/PRPH2 db key
GTR C1842914
db key
GTR CN230163
db key
html:p GeneReviews bvd
db key
MeSH D057826
db key
OMIM 153700
db key
OMIM 608161
html:p db key
Orphanet 1243
db key
SNOMED CT 90036004
related-gene-list
Vitiligo https://ghr.nlm.nih.gov/condition/vitiligo Vitiligo is a common disorder, affecting between 0.5 percent and 1 percent html:p pattern unknown NLRP1 https://ghr.nlm.nih.gov/gene/NLRP1 VTLG db key 2015-01 2017-12-29
of the population worldwide. While the condition may be more noticeable in related-gene gene-symbol ghr-page GTR C0042900
dark-skinned people, it occurs with similar frequency in all ethnic groups. PTPN22 https://ghr.nlm.nih.gov/gene/PTPN22 db key
ICD-10-CM H02.73
db key
html:p ICD-10-CM H02.731
db key
ICD-10-CM H02.732
db key
ICD-10-CM H02.733
db key
ICD-10-CM H02.734
db key
ICD-10-CM H02.735
db key
ICD-10-CM H02.736
html:p db key
ICD-10-CM H02.739
db key
ICD-10-CM L80
db key
MeSH D014820
db key
html:p OMIM 193200
db key
Orphanet 3435
db key
inheritance-pattern-list related-gene-list SNOMED CT 56727007
VLDLR-associated cerebellar hypoplasia https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia VLDLR-associated cerebellar hypoplasia is rare; its prevalence is unknown. html:p ar autosomal recessive ghr-page autosomal recessive cerebellar ataxia with mental retardation db-key db key 2009-10 2017-12-29
The condition was first described in the Hutterite population in Canada and the https://ghr.nlm.nih.gov/gene/VLDLR autosomal recessive cerebellar hypoplasia with cerebral gyral simplification GTR C0394006
United States. This condition has also been reported in families from Iran and cerebellar disorder, nonprogressive, with mental retardation db-key db key
Turkey. cerebellar hypoplasia and mental retardation with or without quadrupedal GeneReviews ataxias
locomotion db-key db key
cerebellar hypoplasia, VLDLR-associated GeneReviews vldlr-ch
CHMRQ1 db-key db key
DES-VLDLR MeSH D002524
dysequilibrium syndrome-VLDLR db-key db key
html:p VLDLR-CH OMIM 224050
VLDLRCH db-key db key
Orphanet 1398
db-key db key
SNOMED CT 230782004
related-gene-list
Vohwinkel syndrome https://ghr.nlm.nih.gov/condition/vohwinkel-syndrome Vohwinkel syndrome is a rare disorder; about 50 cases have been reported in html:p autosomal dominant GJB2 https://ghr.nlm.nih.gov/gene/GJB2 congenital deafness with keratopachydermia and constrictions of fingers and toes db key 2012-11 2017-12-29
the medical literature. related-gene gene-symbol ghr-page keratoderma hereditarium mutilans GTR C0265964
html:p LOR https://ghr.nlm.nih.gov/gene/LOR KHM db key
mutilating keratoderma GTR C1858805
palmoplantar keratoderma mutilans db key
palmoplantar keratoderma mutilans Vohwinkel MeSH D007645
PPK mutilans Vohwinkel db key
OMIM 124500
db key
OMIM 604117
db key
html:p SNOMED CT 24559001
related-gene-list
Von Hippel-Lindau syndrome https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 html:p autosomal dominant VHL https://ghr.nlm.nih.gov/gene/VHL angiomatosis retinae db key 2012-07 2017-12-29
individuals. cerebelloretinal angiomatosis, familial GTR C0019562
Hippel-Lindau disease db key
VHL syndrome GeneReviews vhl
von Hippel-Lindau disease db key
html:p ICD-10-CM Q85.8
db key
MeSH D006623
db key
OMIM 193300
db key
Orphanet 892
db key
html:p SNOMED CT 46659004
html:p
html:p
related-gene-list
Von Willebrand disease https://ghr.nlm.nih.gov/condition/von-willebrand-disease Von Willebrand disease is estimated to affect 1 in 100 to 10,000 html:p autosomal dominant VWF https://ghr.nlm.nih.gov/gene/VWF angiohemophilia db key 2012-12 2017-12-29
individuals. Because people with mild signs and symptoms may not come to medical memo vascular pseudohemophilia GTR C0042974
attention, it is thought that this condition is underdiagnosed. Most autosomal recessive von Willebrand disorder db key
researchers agree that von Willebrand disease is the most common genetic von Willebrand's factor deficiency GeneReviews von-willebrand
bleeding disorder. db key
ICD-10-CM D68.0
db key
MeSH D014842
db key
Orphanet 903
db key
SNOMED CT 12501008
html:p db key
SNOMED CT 128105004
db key
SNOMED CT 128106003
db key
SNOMED CT 128107007
db key
SNOMED CT 128108002
db key
SNOMED CT 128113003
db key
SNOMED CT 128114009
db key
SNOMED CT 1908008
db key
SNOMED CT 19520006
db key
SNOMED CT 234446004
db key
SNOMED CT 234447008
db key
SNOMED CT 234448003
db key
SNOMED CT 234450006
db key
SNOMED CT 24663001
db key
SNOMED CT 35066007
db key
SNOMED CT 359700009
db key
SNOMED CT 359704000
db key
SNOMED CT 359709005
db key
SNOMED CT 359711001
db key
SNOMED CT 359714009
db key
SNOMED CT 359717002
db key
SNOMED CT 359721009
db key
SNOMED CT 359725000
db key
SNOMED CT 359729006
db key
SNOMED CT 359732009
db key
SNOMED CT 52137009
db key
SNOMED CT 71723006
db key
related-gene-list SNOMED CT 87397002
Waardenburg syndrome https://ghr.nlm.nih.gov/condition/waardenburg-syndrome Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts html:p autosomal dominant EDN3 https://ghr.nlm.nih.gov/gene/EDN3 Waardenburg's syndrome db key 2016-08 2017-12-29
蓝色眼珠 for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are related-gene gene-symbol ghr-page GTR C0342680
the most common forms of Waardenburg syndrome, while types III and IV are rare. EDNRB https://ghr.nlm.nih.gov/gene/EDNRB db key
related-gene gene-symbol ghr-page GTR C1837203
MITF https://ghr.nlm.nih.gov/gene/MITF db key
related-gene gene-symbol ghr-page GTR C1838447
PAX3 https://ghr.nlm.nih.gov/gene/PAX3 db key
related-gene gene-symbol ghr-page GTR C1847722
SNAI2 https://ghr.nlm.nih.gov/gene/SNAI2 db key
related-gene gene-symbol ghr-page GTR C1847800
html:p SOX10 https://ghr.nlm.nih.gov/gene/SOX10 db key
GTR C1848519
db key
GTR C1860339
db key
GTR C2700405
db key
GTR C2750452
db key
GTR C2750457
db key
GeneReviews ws1
db key
MeSH D014849
db key
OMIM 148820
db key
OMIM 193500
db key
OMIM 193510
db key
OMIM 277580
db key
OMIM 600193
db key
OMIM 606662
db key
OMIM 608890
db key
OMIM 611584
db key
OMIM 613265
db key
OMIM 613266
db key
Orphanet 894
db key
Orphanet 895
db key
Orphanet 896
db key
Orphanet 897
db key
Orphanet 3440
db key
related-gene-list SNOMED CT 47434006
Wagner syndrome https://ghr.nlm.nih.gov/condition/wagner-syndrome Wagner syndrome is a rare disorder, although its exact prevalence is html:p autosomal dominant VCAN https://ghr.nlm.nih.gov/gene/VCAN hyaloideoretinal degeneration of Wagner db key 2014-07 2017-12-29
unknown. Approximately 300 affected individuals have been described worldwide; VCAN-related vitreoretinopathy GTR C0339540
about half of these individuals are from the Netherlands. Wagner disease db key
html:p Wagner vitreoretinal degeneration GeneReviews wagner
Wagner vitreoretinopathy db key
MeSH D012162
db key
OMIM 143200
db key
Orphanet 898
db key
SNOMED CT 232064001
html:p
related-gene-list
WAGR syndrome https://ghr.nlm.nih.gov/condition/wagr-syndrome The prevalence of WAGR syndrome ranges from 1 in 500,000 to one million html:p not inherited BDNF https://ghr.nlm.nih.gov/gene/BDNF 11p deletion syndrome db key 2014-12 2017-12-29
individuals. It is estimated that one-third of people with aniridia actually related-gene gene-symbol ghr-page 11p partial monosomy syndrome GTR C0206115
have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be PAX6 https://ghr.nlm.nih.gov/gene/PAX6 WAGR complex db key
attributed to WAGR syndrome. html:p related-gene gene-symbol ghr-page WAGR contiguous gene syndrome GTR C2675904
WT1 https://ghr.nlm.nih.gov/gene/WT1 Wilms tumor-aniridia-genital anomalies-retardation syndrome db key
related-chromosome name ghr-page Wilms tumor-aniridia-genitourinary anomalies-MR syndrome GeneReviews aniridia
html:p 11 https://ghr.nlm.nih.gov/chromosome/11 Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome db key
GeneReviews wilms-ov
db key
MeSH D017624
db key
OMIM 194072
html:p db key
OMIM 612469
db key
Orphanet 893
db key
SNOMED CT 4135001
html:p
html:p
related-gene-list
Waldenström macroglobulinemia https://ghr.nlm.nih.gov/condition/waldenstrom-macroglobulinemia Waldenström macroglobulinemia affects an estimated 3 per million people html:p not inherited CXCR4 https://ghr.nlm.nih.gov/gene/CXCR4 macroglobulinemia of Waldenstrom db key 2015-03 2017-12-29
each year in the United States. Approximately 1,500 new cases of the condition related-gene gene-symbol ghr-page Waldenstrom macroglobulinemia GTR C1835192
are diagnosed each year in this country, and whites are more commonly affected MYD88 https://ghr.nlm.nih.gov/gene/MYD88 Waldenstrom's macroglobulinemia db key
than African Americans. For unknown reasons, the condition occurs twice as often WM ICD-10-CM C88.0
in men than women. db key
MeSH D008258
db key
OMIM 153600
html:p db key
Orphanet 33226
db key
SNOMED CT 190818004
html:p
html:p
html:p
related-gene-list
Walker-Warburg syndrome https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns html:p autosomal recessive B3GALNT2 https://ghr.nlm.nih.gov/gene/B3GALNT2 cerebroocular dysplasia-muscular dystrophy syndrome db key 2017-01 2017-12-29
worldwide. related-gene gene-symbol ghr-page Chemke syndrome GTR C0265221
B4GAT1 https://ghr.nlm.nih.gov/gene/B4GAT1 COD-MD syndrome db key
related-gene gene-symbol ghr-page HARD syndrome GeneReviews cmd-overview
DAG1 https://ghr.nlm.nih.gov/gene/DAG1 hydrocephalus, agyria, and retinal dysplasia db key
related-gene gene-symbol ghr-page MDDGA MeSH D058494
FKRP https://ghr.nlm.nih.gov/gene/FKRP muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), db key
html:p related-gene gene-symbol ghr-page type A OMIM 236670
FKTN https://ghr.nlm.nih.gov/gene/FKTN muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A db key
related-gene gene-symbol ghr-page Walker-Warburg congenital muscular dystrophy OMIM 253800
html:p ISPD https://ghr.nlm.nih.gov/gene/ISPD db key
related-gene gene-symbol ghr-page OMIM 613150
LARGE1 https://ghr.nlm.nih.gov/gene/LARGE1 db key
related-gene gene-symbol ghr-page OMIM 613153
POMGNT1 https://ghr.nlm.nih.gov/gene/POMGNT1 db key
related-gene gene-symbol ghr-page OMIM 613154
POMGNT2 https://ghr.nlm.nih.gov/gene/POMGNT2 db key
related-gene gene-symbol ghr-page OMIM 614643
POMK https://ghr.nlm.nih.gov/gene/POMK db key
related-gene gene-symbol ghr-page OMIM 614830
html:p POMT1 https://ghr.nlm.nih.gov/gene/POMT1 db key
related-gene gene-symbol ghr-page OMIM 615041
POMT2 https://ghr.nlm.nih.gov/gene/POMT2 db key
related-gene gene-symbol ghr-page OMIM 615181
RXYLT1 https://ghr.nlm.nih.gov/gene/RXYLT1 db key
OMIM 615249
db key
OMIM 615287
db key
OMIM 616538
db key
Orphanet 899
db key
related-gene-list SNOMED CT 111504002
Warfarin resistance https://ghr.nlm.nih.gov/condition/warfarin-resistance Warfarin resistance is thought to be a rare condition, although its html:p autosomal dominant ABCB1 https://ghr.nlm.nih.gov/gene/ABCB1 coumarin resistance db key 2015-07 2017-12-29
prevalence is unknown. related-gene gene-symbol ghr-page poor metabolism of coumarin GTR CN078029
UGT1A1 https://ghr.nlm.nih.gov/gene/UGT1A1 db key
related-gene gene-symbol ghr-page MeSH D004305
VKORC1 https://ghr.nlm.nih.gov/gene/VKORC1 db key
OMIM 122700
db key
html:p SNOMED CT 243873002
html:p
html:p
related-gene-list
Warfarin sensitivity https://ghr.nlm.nih.gov/condition/warfarin-sensitivity The prevalence of warfarin sensitivity is unknown. However, it appears to html:p autosomal dominant CYP2C9 https://ghr.nlm.nih.gov/gene/CYP2C9 coumadin sensitivity db key 2015-06 2017-12-29
be more common in people who are older, those with lower body weights, and related-gene gene-symbol ghr-page warfarin response GTR CN078029
individuals of Asian ancestry.Of the approximately 2 million people in the U.S. CYP4F2 https://ghr.nlm.nih.gov/gene/CYP4F2 db key
who are prescribed warfarin annually, 35,000 to 45,000 individuals go to related-gene gene-symbol ghr-page MeSH D004305
hospital emergency rooms with warfarin-related adverse drug events. While it is F9 https://ghr.nlm.nih.gov/gene/F9 db key
unclear how many of these events are due to warfarin sensitivity, the most related-gene gene-symbol ghr-page OMIM 122700
common sign is excessive internal bleeding, which is often seen when individuals GGCX https://ghr.nlm.nih.gov/gene/GGCX db key
with warfarin sensitivity are given too much of the medication. html:p related-gene gene-symbol ghr-page Orphanet 240997
VKORC1 https://ghr.nlm.nih.gov/gene/VKORC1 db key
SNOMED CT 243873002
html:p
related-gene-list
Warsaw breakage syndrome https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome Warsaw breakage syndrome is a rare condition; at least four cases have been html:p autosomal recessive DDX11 https://ghr.nlm.nih.gov/gene/DDX11 WABS db key 2014-02 2017-12-29
described in the medical literature. GTR C3150658
db key
MeSH D049914
db key
OMIM 613398
db key
Orphanet 280558
db key
related-gene-list SNOMED CT 702829000
Weaver syndrome https://ghr.nlm.nih.gov/condition/weaver-syndrome The prevalence of Weaver syndrome is unknown. About 50 affected individuals html:p autosomal dominant EZH2 https://ghr.nlm.nih.gov/gene/EZH2 camptodactyly-overgrowth-unusual facies db key 2016-03 2017-12-29
have been described in the medical literature. Weaver-Smith syndrome GTR C0265210
WSS db key
MeSH D000015
db key
html:p OMIM 277590
db key
Orphanet 3447
db key
SNOMED CT 63119004
html:p
related-gene-list
Weill-Marchesani syndrome https://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome Weill-Marchesani syndrome appears to be rare; it has an estimated html:p autosomal dominant ADAMTS10 https://ghr.nlm.nih.gov/gene/ADAMTS10 brachydactyly-spherophakia syndrome db key 2015-02 2017-12-29
prevalence of 1 in 100,000 people. memo related-gene gene-symbol ghr-page brachymorphy with spherophakia syndrome GTR C0265313
autosomal recessive FBN1 https://ghr.nlm.nih.gov/gene/FBN1 congenital mesodermal dysmorphodystrophy db key
html:p Marchesani syndrome GTR C1869114
Marchesani-Weill Syndrome db key
spherophakia-brachymorphia syndrome GTR C1869115
WMS db key
GTR C3553785
html:p db key
GeneReviews weill-ms
db key
MeSH D056846
db key
OMIM 277600
html:p db key
OMIM 608328
db key
OMIM 614819
db key
Orphanet 3449
db key
related-gene-list SNOMED CT 2884008
Weissenbacher-Zweymüller syndrome https://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome Weissenbacher-Zweymüller syndrome is very rare; only a few affected html:p autosomal dominant COL11A2 https://ghr.nlm.nih.gov/gene/COL11A2 heterozygous OSMED db key 2016-05 2017-12-29
families worldwide have been described in the medical literature. heterozygous otospondylomegaepiphyseal dysplasia GTR C1848488
Pierre Robin syndrome with fetal chondrodysplasia db key
WZS MeSH D003095
db key
OMIM 184840
db key
Orphanet 3450
html:p db key
SNOMED CT 699313003
html:p
related-gene-list
Werner syndrome https://ghr.nlm.nih.gov/condition/werner-syndrome Werner syndrome is estimated to affect 1 in 200,000 individuals in the html:p autosomal recessive WRN https://ghr.nlm.nih.gov/gene/WRN Adult premature aging syndrome db key 2012-12 2017-12-29
United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 Adult Progeria GTR C0043119
to 1 in 40,000 people. Werner's Syndrome db key
Werners Syndrome GeneReviews werner
WS db key
MeSH D014898
db key
OMIM 277700
db key
html:p Orphanet 902
db key
SNOMED CT 51626007
related-gene-list
Weyers acrofacial dysostosis https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis Weyers acrofacial dysostosis appears to be a rare disorder. Only a few html:p autosomal dominant EVC https://ghr.nlm.nih.gov/gene/EVC acrodental dysostosis of Weyers db key 2012-12 2017-12-29
affected families have been identified worldwide. related-gene gene-symbol ghr-page Curry-Hall syndrome GTR C0457013
EVC2 https://ghr.nlm.nih.gov/gene/EVC2 Weyers acrodental dysostosis db key
MeSH D004413
db key
OMIM 193530
db key
html:p Orphanet 952
db key
SNOMED CT 277807007
related-gene-list
White sponge nevus https://ghr.nlm.nih.gov/condition/white-sponge-nevus The exact prevalence of white sponge nevus is unknown, but it is estimated html:p autosomal dominant KRT4 https://ghr.nlm.nih.gov/gene/KRT4 Cannon's disease db key 2014-02 2017-12-29
to affect less than 1 in 200,000 individuals worldwide. related-gene gene-symbol ghr-page familial white folded mucosal dysplasia GTR C1721005
KRT13 https://ghr.nlm.nih.gov/gene/KRT13 hereditary leukokeratosis db key
hereditary mucosal leukokeratosis MeSH D053529
hereditary oral keratosis db key
leukokeratosis of oral mucosa OMIM 193900
leukokeratosis, hereditary mucosal db key
nevus of Cannon OMIM 615785
html:p white folded gingivostomatosis db key
white gingivostomatitis Orphanet 171723
white sponge naevus db key
white sponge nevus of Cannon SNOMED CT 389203001
white sponge nevus of mucosa
WSN
related-gene-list
Williams syndrome https://ghr.nlm.nih.gov/condition/williams-syndrome Williams syndrome affects an estimated 1 in 7,500 to 10,000 people. html:p autosomal dominant ABHD11 https://ghr.nlm.nih.gov/gene/ABHD11 Beuren syndrome db key 2014-12 2017-12-29
related-gene gene-symbol ghr-page elfin facies syndrome GTR C0175702
BAZ1B https://ghr.nlm.nih.gov/gene/BAZ1B elfin facies with hypercalcemia db key
related-gene gene-symbol ghr-page hypercalcemia-supravalvar aortic stenosis GeneReviews williams
html:p BCL7B https://ghr.nlm.nih.gov/gene/BCL7B infantile hypercalcemia db key
related-gene gene-symbol ghr-page supravalvar aortic stenosis syndrome MeSH D018980
BUD23 https://ghr.nlm.nih.gov/gene/BUD23 WBS db key
related-gene gene-symbol ghr-page Williams-Beuren syndrome OMIM 194050
CLDN3 https://ghr.nlm.nih.gov/gene/CLDN3 WMS db key
related-gene gene-symbol ghr-page WS Orphanet 904
CLDN4 https://ghr.nlm.nih.gov/gene/CLDN4 db key
html:p related-gene gene-symbol ghr-page SNOMED CT 63247009
CLIP2 https://ghr.nlm.nih.gov/gene/CLIP2
related-gene gene-symbol ghr-page
DNAJC30 https://ghr.nlm.nih.gov/gene/DNAJC30
related-gene gene-symbol ghr-page
html:p EIF4H https://ghr.nlm.nih.gov/gene/EIF4H
related-gene gene-symbol ghr-page
ELN https://ghr.nlm.nih.gov/gene/ELN
related-gene gene-symbol ghr-page
FKBP6 https://ghr.nlm.nih.gov/gene/FKBP6
related-gene gene-symbol ghr-page
FZD9 https://ghr.nlm.nih.gov/gene/FZD9
related-gene gene-symbol ghr-page
html:p GTF2I https://ghr.nlm.nih.gov/gene/GTF2I
related-gene gene-symbol ghr-page
GTF2IRD1 https://ghr.nlm.nih.gov/gene/GTF2IRD1
related-gene gene-symbol ghr-page
GTF2IRD2 https://ghr.nlm.nih.gov/gene/GTF2IRD2
related-gene gene-symbol ghr-page
LAT2 https://ghr.nlm.nih.gov/gene/LAT2
related-gene gene-symbol ghr-page
LIMK1 https://ghr.nlm.nih.gov/gene/LIMK1
related-gene gene-symbol ghr-page
METTL27 https://ghr.nlm.nih.gov/gene/METTL27
related-gene gene-symbol ghr-page
MLXIPL https://ghr.nlm.nih.gov/gene/MLXIPL
related-gene gene-symbol ghr-page
NCF1 https://ghr.nlm.nih.gov/gene/NCF1
related-gene gene-symbol ghr-page
NSUN5 https://ghr.nlm.nih.gov/gene/NSUN5
related-gene gene-symbol ghr-page
RFC2 https://ghr.nlm.nih.gov/gene/RFC2
related-gene gene-symbol ghr-page
STX1A https://ghr.nlm.nih.gov/gene/STX1A
related-gene gene-symbol ghr-page
TBL2 https://ghr.nlm.nih.gov/gene/TBL2
related-gene gene-symbol ghr-page
TMEM270 https://ghr.nlm.nih.gov/gene/TMEM270
related-gene gene-symbol ghr-page
TRIM50 https://ghr.nlm.nih.gov/gene/TRIM50
related-gene gene-symbol ghr-page
VPS37D https://ghr.nlm.nih.gov/gene/VPS37D
related-chromosome name ghr-page
7 https://ghr.nlm.nih.gov/chromosome/7
related-gene-list
Wilson disease https://ghr.nlm.nih.gov/condition/wilson-disease Wilson disease is a rare disorder that affects approximately 1 in 30,000 html:p autosomal recessive ATP7B https://ghr.nlm.nih.gov/gene/ATP7B copper storage disease db key 2014-01 2017-12-29
小精灵综合症 individuals. related-gene gene-symbol ghr-page hepatolenticular degeneration syndrome GTR C0019202
PRNP https://ghr.nlm.nih.gov/gene/PRNP WD db key
Wilson's disease GeneReviews wilson
db key
ICD-10-CM E83.01
html:p db key
MeSH D006527
db key
OMIM 277900
db key
html:p Orphanet 905
db key
SNOMED CT 88518009
html:p
related-gene-list
Winchester syndrome https://ghr.nlm.nih.gov/condition/winchester-syndrome Winchester syndrome is a rare condition whose prevalence is unknown. It has html:p autosomal recessive MMP14 https://ghr.nlm.nih.gov/gene/MMP14 Winchester disease db key 2013-12 2017-12-29
been reported in only a few individuals worldwide. WNCHRS GTR C0432289
db key
MeSH D010014
db key
OMIM 277950
html:p db key
Orphanet 3460
db key
SNOMED CT 254151006
html:p
related-gene-list
Wiskott-Aldrich syndrome https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome The estimated incidence of Wiskott-Aldrich syndrome is between 1 and 10 html:p X-linked recessive WAS https://ghr.nlm.nih.gov/gene/WAS eczema-thrombocytopenia-immunodeficiency syndrome db key 2013-02 2017-12-29
cases per million males worldwide; this condition is rarer in females. IMD2 GTR C0043194
immunodeficiency 2 db key
html:p Wiskott syndrome GeneReviews was
db key
ICD-10-CM D82.0
db key
MeSH D014923
html:p db key
OMIM 301000
db key
Orphanet 906
db key
SNOMED CT 36070007
related-gene-list
Wolf-Hirschhorn syndrome https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 html:p not inherited LETM1 https://ghr.nlm.nih.gov/gene/LETM1 4p deletion syndrome db key 2012-04 2017-12-29
births. However, this may be an underestimate because it is likely that some related-gene gene-symbol ghr-page 4p- syndrome GTR C1956097
affected individuals are never diagnosed.For unknown reasons, Wolf-Hirschhorn MSX1 https://ghr.nlm.nih.gov/gene/MSX1 chromosome 4p deletion syndrome db key
syndrome occurs in about twice as many females as males. html:p related-gene gene-symbol ghr-page chromosome 4p monosomy GeneReviews whs
NSD2 https://ghr.nlm.nih.gov/gene/NSD2 del(4p) syndrome db key
related-chromosome name ghr-page monosomy 4p ICD-10-CM Q93.3
4 https://ghr.nlm.nih.gov/chromosome/4 partial monosomy 4p db key
WHS MeSH D054877
db key
OMIM 194190
db key
html:p Orphanet 280
db key
SNOMED CT 17122004
html:p
html:p
html:p
related-gene-list
Wolff-Parkinson-White syndrome https://ghr.nlm.nih.gov/condition/wolff-parkinson-white-syndrome Wolff-Parkinson-White syndrome affects 1 to 3 in 1,000 people html:p autosomal dominant PRKAG2 https://ghr.nlm.nih.gov/gene/PRKAG2 Ventricular pre-excitation with arrhythmia db key 2017-06 2017-12-29
worldwide.Wolff-Parkinson-White syndrome is a common cause of an arrhythmia WPW Syndrome GTR C0043202
known as paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome db key
is the most frequent cause of this in the Chinese html:p ICD-10-CM I45.6
population, where it is responsible for more than 70 percent of cases. db key
MeSH D014927
db key
OMIM 194200
db key
html:p Orphanet 907
db key
SNOMED CT 74390002
html:p
html:p
related-gene-list
Wolfram syndrome https://ghr.nlm.nih.gov/condition/wolfram-syndrome The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people html:p autosomal recessive CISD2 https://ghr.nlm.nih.gov/gene/CISD2 diabetes insipidus and mellitus with optic atrophy and deafness db key 2015-09 2017-12-29
worldwide. Approximately 200 cases have been described in the scientific related-gene gene-symbol ghr-page diabetes insipidus, diabetes mellitus, optic atrophy, and deafness GTR C0043207
literature. Only a few families from Jordan have been found to have Wolfram WFS1 https://ghr.nlm.nih.gov/gene/WFS1 DIDMOAD db key
syndrome type 2. DIDMOAD syndrome GTR C1858028
DIDMOADUD db key
GeneReviews wfs
db key
MeSH D014929
db key
OMIM 222300
html:p db key
OMIM 604928
db key
Orphanet 3463
db key
SNOMED CT 70694009
html:p
html:p
html:p
html:p
related-gene-list
Woodhouse-Sakati syndrome https://ghr.nlm.nih.gov/condition/woodhouse-sakati-syndrome Woodhouse-Sakati syndrome is a rare disorder; its prevalence is unknown. html:p autosomal recessive DCAF17 https://ghr.nlm.nih.gov/gene/DCAF17 diabetes-hypogonadism-deafness- disability syndrome db key 2016-09 2017-12-29
Only a few dozen affected families, mostly in the Middle East, have been extrapyramidal disorder, progressive, with primary hypogonadism, mental GTR C0342286
described in the medical literature. retardation, and alopecia db key
hypogonadism, alopecia, diabetes mellitus, mental retardation, and GeneReviews wss
html:p extrapyramidal syndrome db key
hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and MeSH D001480
extrapyramidal syndrome db key
hypogonadism, diabetes mellitus, alopecia, mental retardation and MeSH D007006
electrocardiographic abnormalities db key
WSS OMIM 241080
db key
Orphanet 3464
db key
SNOMED CT 237616002
html:p
html:p
html:p
related-gene-list
X-linked acrogigantism https://ghr.nlm.nih.gov/condition/x-linked-acrogigantism X-LAG is thought to be a rare condition, although the prevalence is not html:p autosomal dominant GPR101 https://ghr.nlm.nih.gov/gene/GPR101 chromosome Xq26 microduplication syndrome db key 2017-11 2017-12-29
known. It occurs more frequently in females than in males. X-LAG accounts for related-chromosome name ghr-page chromosome Xq26.3 duplication syndrome GTR C3891556
one in ten cases of abnormally fast growth in children that is caused by X https://ghr.nlm.nih.gov/chromosome/X X-LAG db key
pituitary gland abnormalities (pituitary gigantism). X-linked acrogigantism syndrome MeSH D005877
html:p XLAG db key
OMIM 300942
db key
Orphanet 448372
html:p
related-gene-list
X-linked adrenal hypoplasia congenita https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita X-linked adrenal hypoplasia congenita appears to be an uncommon condition. html:p X-linked recessive NR0B1 https://ghr.nlm.nih.gov/gene/NR0B1 Adrenal hypoplasia congenita db key 2008-04 2017-12-29
It has been reported to affect approximately 1 in 12,500 newborns, but this is X-linked AHC GTR C0342482
likely an overestimate. The true prevalence of this condition is unknown. db key
GeneReviews ahc
db key
html:p MeSH D000307
db key
OMIM 300200
db key
Orphanet 95702
html:p db key
SNOMED CT 237764004
html:p
related-gene-list
X-linked adrenoleukodystrophy https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy The prevalence of X-linked adrenoleukodystrophy is 1 in 20,000 to 50,000 html:p X-linked recessive ABCD1 https://ghr.nlm.nih.gov/gene/ABCD1 Addison disease and cerebral sclerosis db key 2013-07 2017-12-29
individuals worldwide. This condition occurs with a similar frequency in all melanodermic leukodystrophy GTR C0162309
populations. Schilder-Addison Complex db key
Schilder disease GeneReviews x-ald
Siemerling-Creutzfeldt disease db key
X-ALD ICD-10-CM E71.52
db key
ICD-10-CM E71.520
db key
html:p ICD-10-CM E71.521
db key
ICD-10-CM E71.522
html:p db key
ICD-10-CM E71.528
db key
ICD-10-CM E71.529
db key
MeSH D000326
db key
OMIM 300100
db key
Orphanet 43
db key
SNOMED CT 366951000119109
html:p db key
SNOMED CT 367041000119108
db key
SNOMED CT 65389002
html:p
html:p
html:p
related-gene-list
X-linked agammaglobulinemia https://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia XLA occurs in approximately 1 in 200,000 newborns. html:p X-linked recessive BTK https://ghr.nlm.nih.gov/gene/BTK agammaglobulinemia db key 2015-02 2017-12-29
Bruton's agammaglobulinemia GTR C0221026
congenital agammaglobulinemia db key
hypogammaglobulinemia GeneReviews xla
XLA db key
ICD-10-CM D80.0
db key
html:p MeSH D000361
db key
OMIM 300755
db key
Orphanet 47
db key
SNOMED CT 65880007
related-gene-list
X-linked cardiac valvular dysplasia https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia The prevalence of X-linked cardiac valvular dysplasia is unknown. html:p X-linked FLNA https://ghr.nlm.nih.gov/gene/FLNA congenital valvular heart disease db key 2016-08 2017-12-29
Approximately 3 percent of the population has a heart valve defect, only a small CVD1 GTR C0262436
fraction of which are associated with X-linked cardiac valvular dysplasia. filamin-A-associated myxomatous mitral valve disease db key
filamin-A-related myxomatous mitral valve dystrophy MeSH D016127
X-linked myxomatous valvular dystrophy db key
XMVD OMIM 314400
db key
SNOMED CT 5203004
html:p
html:p
html:p
related-gene-list
X-linked chondrodysplasia punctata 1 https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-1 The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several html:p X-linked recessive ARSE https://ghr.nlm.nih.gov/gene/ARSE arylsulfatase E deficiency db key 2011-11 2017-12-29
dozen affected males have been reported in the scientific literature. CDPX1 GTR C1844853
chondrodysplasia punctata 1, X-linked db key
X-linked recessive chondrodysplasia punctata 1 GeneReviews cdp1-xlr
db key
ICD-10-CM Q77.3
db key
html:p MeSH D002806
db key
OMIM 302950
db key
html:p Orphanet 79345
db key
SNOMED CT 254082007
related-gene-list
X-linked chondrodysplasia punctata 2 https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 X-linked chondrodysplasia punctata 2 has been estimated to affect fewer html:p X-linked dominant EBP https://ghr.nlm.nih.gov/gene/EBP CDPX2 db key 2011-11 2017-12-29
than 1 in 400,000 newborns. However, the disorder may actually be more common chondrodysplasia punctata 2, X-linked GTR C0282102
than this estimate because it is likely underdiagnosed, particularly in females html:p Conradi-Hünermann-Happle syndrome db key
with mild signs and symptoms.More than 95 percent of cases of X-linked Conradi-Hünermann Syndrome GeneReviews x-dcdp
chondrodysplasia punctata 2 occur in females. About a dozen males with the Happle syndrome db key
condition have been reported in the scientific literature. X-linked dominant chondrodysplasia punctata ICD-10-CM Q77.3
db key
MeSH D002806
db key
OMIM 302960
db key
Orphanet 35173
db key
SNOMED CT 398719004
html:p
html:p
html:p
related-gene-list
X-linked congenital stationary night blindness https://ghr.nlm.nih.gov/condition/x-linked-congenital-stationary-night-blindness The prevalence of this condition is unknown. It appears to be more common html:p X-linked recessive CACNA1F https://ghr.nlm.nih.gov/gene/CACNA1F X-linked CSNB db key 2009-05 2017-12-29
in people of Dutch-German Mennonite descent. However, this disorder has been related-gene gene-symbol ghr-page XLCSNB GTR C0339535
reported in families with many different ethnic backgrounds. The incomplete form NYX https://ghr.nlm.nih.gov/gene/NYX db key
is more common than the complete form. GTR C1839601
db key
GTR C1848172
db key
html:p GeneReviews csnb
db key
html:p ICD-10-CM H53.63
db key
MeSH D009755
db key
OMIM 300071
db key
OMIM 310500
db key
Orphanet 215
db key
related-gene-list SNOMED CT 232061009
X-linked creatine deficiency https://ghr.nlm.nih.gov/condition/x-linked-creatine-deficiency The prevalence of X-linked creatine deficiency is unknown. More than 150 html:p X-linked SLC6A8 https://ghr.nlm.nih.gov/gene/SLC6A8 creatine transporter defect db key 2015-06 2017-12-29
affected individuals have been identified. The disorder has been estimated to creatine transporter deficiency GTR C1845862
account for between 1 and 2 percent of males with disability. SLC6A8 deficiency db key
SLC6A8-related creatine transporter deficiency GeneReviews creatine
X-linked creatine deficiency syndrome db key
MeSH D020739
db key
OMIM 300352
html:p db key
Orphanet 52503
db key
SNOMED CT 698290008
related-gene-list
X-linked dilated cardiomyopathy https://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy X-linked dilated cardiomyopathy appears to be an uncommon condition, html:p xd X-linked dominant DMD synonym db-key db key 2017-02 2017-12-29
although its prevalence is unknown. synonym GTR C3668940
synonym db-key db key
synonym GeneReviews dbmd
synonym db-key db key
synonym GeneReviews dcm-ov
db-key db key
ICD-10-CM I42.0
html:p db-key db key
MeSH D002311
db-key db key
OMIM 302045
db-key db key
Orphanet 154
db-key db key
SNOMED CT 702424003
related-gene-list
X-linked dystonia-parkinsonism https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism X-linked dystonia-parkinsonism has been reported in more than 500 people of html:p X-linked recessive TAF1 https://ghr.nlm.nih.gov/gene/TAF1 Dystonia 3, torsion, X-linked db key 2008-12 2017-12-29
Filipino descent, although it is likely that many more Filipinos are affected. dystonia musculorum deformans GTR C1839130
Most people with this condition can trace their mother's ancestry to the island Dystonia-parkinsonism, X-linked db key
of Panay in the Philippines. The prevalence of the disorder is 5.24 per html:p DYT3 GeneReviews xdp
100,000 people on the island of Panay. Lubag db key
Torsion dystonia-parkinsonism, Filipino type MeSH D020734
X-linked dystonia-parkinsonism syndrome db key
X-linked torsion dystonia-parkinsonism syndrome OMIM 314250
html:p XDP db key
Orphanet 53351
db key
SNOMED CT 698279003
html:p
related-gene-list
X-linked hyper IgM syndrome https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome X-linked hyper IgM syndrome is estimated to occur in 2 per million newborn html:p X-linked recessive CD40LG https://ghr.nlm.nih.gov/gene/CD40LG HIGM1 db key 2013-04 2017-12-29
boys. Hyper-IgM syndrome 1 GTR C0398689
Immunodeficiency with Hyper-IgM, type 1 db key
GeneReviews xlhi
db key
ICD-10-CM D80.5
db key
MeSH D053307
db key
OMIM 308230
db key
SNOMED CT 403835002
html:p
html:p
related-gene-list
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defec The prevalence of XMEN is unknown. Only a few affected individuals have html:p X-linked recessive MAGT1 https://ghr.nlm.nih.gov/gene/MAGT1 immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection, db key 2014-06 2017-12-29
t-epstein-barr-virus-infection-and-neoplasia been described in the medical literature. and neoplasia GTR C3275445
XMEN db key
MeSH D008231
db key
OMIM 300853
db key
Orphanet 317476
db key
html:p SNOMED CT 711481001
related-gene-list
X-linked infantile nystagmus https://ghr.nlm.nih.gov/condition/x-linked-infantile-nystagmus The incidence of all forms of infantile nystagmus is estimated to be 1 in html:p X-linked FRMD7 https://ghr.nlm.nih.gov/gene/FRMD7 congenital motor nystagmus db key 2009-09 2017-12-29
5,000 newborns; however, the precise incidence of X-linked infantile nystagmus FRMD7-related infantile nystagmus GTR C1839580
is unknown. idiopathic infantile nystagmus db key
NYS1 GeneReviews xl-nystag
X-linked congenital nystagmus db key
X-linked idiopathic infantile nystagmus ICD-10-CM H55.01
db key
MeSH D020417
db key
OMIM 310700
db key
Orphanet 651
db key
SNOMED CT 307671001
db key
related-gene-list SNOMED CT 64635004
X-linked disability, Siderius type https://ghr.nlm.nih.gov/condition/x-linked--disability-siderius-type While X-linked disability of all types and causes is html:p X-linked recessive PHF8 https://ghr.nlm.nih.gov/gene/PHF8 MRXSSD db key 2015-06 2017-12-29
relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence Siderius-Hamel syndrome GTR C1846055
of the Siderius type is unknown. Only a few affected families have been Siderius X-linked mental retardation syndrome db key
described in the scientific literature. syndromic X-linked mental retardation, Siderius type MeSH D038901
html:p X-linked mental retardation Hamel type db key
X-linked mental retardation Siderius type OMIM 300263
db key
html:p Orphanet 85287
db key
SNOMED CT 718908009
related-gene-list
X-linked juvenile retinoschisis https://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in html:p X-linked recessive RS1 https://ghr.nlm.nih.gov/gene/RS1 congenital X-linked retinoschisis db key 2015-03 2017-12-29
5,000 to 25,000 men worldwide. degenerative retinoschisis GTR C0271091
juvenile retinoschisis db key
X-linked retinoschisis GeneReviews retinoschisis
XJR db key
MeSH D041441
db key
OMIM 312700
db key
Orphanet 792
db key
html:p SNOMED CT 232013002
db key
SNOMED CT 232014008
db key
SNOMED CT 86923008
db key
SNOMED CT 95493003
related-gene-list
X-linked lissencephaly with abnormal genitalia https://ghr.nlm.nih.gov/condition/x-linked-lissencephaly-with-abnormal-genitalia The incidence of XLAG is unknown; approximately 30 affected families have html:p X-linked dominant ARX https://ghr.nlm.nih.gov/gene/ARX LISX2 db key 2013-08 2017-12-29
been described in the medical literature. X-linked lissencephaly 2 GTR C1846171
X-linked lissencephaly with ambiguous genitalia db key
html:p XLAG ICD-10-CM Q04.3
XLISG db key
MeSH D054221
db key
OMIM 300215
db key
Orphanet 452
db key
SNOMED CT 717632002
html:p
html:p
related-gene-list
X-linked lymphoproliferative disease https://ghr.nlm.nih.gov/condition/x-linked-lymphoproliferative-disease XLP1 is estimated to occur in about 1 per million males worldwide. XLP2 is html:p X-linked recessive SH2D1A https://ghr.nlm.nih.gov/gene/SH2D1A Duncan disease db key 2014-11 2017-12-29
less common, occurring in about 1 per 5 million males. related-gene gene-symbol ghr-page Epstein-Barr virus-induced lymphoproliferative disease in males GTR C1845076
XIAP https://ghr.nlm.nih.gov/gene/XIAP familial fatal Epstein-Barr infection db key
Purtilo syndrome GTR C1868674
severe susceptibility to EBV infection db key
severe susceptibility to infectious mononucleosis GeneReviews x-lpd
X-linked lymphoproliferative syndrome db key
XLP ICD-10-CM D82.3
db key
html:p MeSH D008232
db key
OMIM 300635
db key
OMIM 308240
db key
Orphanet 2442
db key
html:p SNOMED CT 77121009
html:p
html:p
html:p
related-gene-list
X-linked myotubular myopathy https://ghr.nlm.nih.gov/condition/x-linked-myotubular-myopathy The incidence of X-linked myotubular myopathy is estimated to be 1 in html:p X-linked recessive MTM1 https://ghr.nlm.nih.gov/gene/MTM1 CNM db key 2014-07 2017-12-29
50,000 newborn males worldwide. MTMX GTR C0410203
X-linked centronuclear myopathy db key
XLMTM GeneReviews mtm
html:p XMTM db key
ICD-10-CM G71.2
db key
MeSH D020914
db key
OMIM 310400
db key
Orphanet 596
db key
SNOMED CT 46804001
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related-gene-list
X-linked severe combined immunodeficiency https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency X-linked SCID is the most common form of severe combined immunodeficiency. html:p X-linked recessive IL2RG https://ghr.nlm.nih.gov/gene/IL2RG IL2RG SCID, T- B+ NK- db key 2016-04 2017-12-29
Its exact incidence is unknown, but the condition probably affects at least 1 SCIDX1 GTR C1279481
in 50,000 to 100,000 newborns. X-linked SCID db key
X-SCID GeneReviews x-scid
XSCID db key
MeSH D053632
db key
OMIM 300400
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Orphanet 276
db key
related-gene-list SNOMED CT 203592006
X-linked sideroblastic anemia https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia This form of anemia is uncommon. However, researchers believe that it may html:p X-linked recessive ALAS2 https://ghr.nlm.nih.gov/gene/ALAS2 Anemia, hereditary sideroblastic db key 2009-04 2017-12-29
not be as rare as they once thought. Increased awareness of the disease has led related-gene gene-symbol ghr-page Anemia, sex-linked hypochromic sideroblastic GTR C0221018
to more frequent diagnoses. HFE https://ghr.nlm.nih.gov/gene/HFE ANH1 db key
Congenital sideroblastic anaemia ICD-10-CM D64.0
Erythroid 5-aminolevulinate synthase deficiency db key
Hereditary iron-loading anemia MeSH D000756
X chromosome-linked sideroblastic anemia db key
X-linked pyridoxine-responsive sideroblastic anemia OMIM 300751
html:p XLSA db key
Orphanet 1047
db key
SNOMED CT 62677000
related-gene-list
X-linked sideroblastic anemia and ataxia https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia X-linked sideroblastic anemia and ataxia is a rare disorder; only a few html:p X-linked recessive ABCB7 https://ghr.nlm.nih.gov/gene/ABCB7 XLSA/A db key 2009-04 2017-12-29
affected families have been reported. GTR C1845028
db key
html:p GeneReviews sider-anemia
db key
ICD-10-CM D64.0
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MeSH D000756
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OMIM 301310
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Orphanet 2802
db key
SNOMED CT 62677000
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related-gene-list
X-linked spondyloepiphyseal dysplasia tarda https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda The prevalence of X-linked spondyloepiphyseal dysplasia tarda is estimated html:p X-linked recessive TRAPPC2 https://ghr.nlm.nih.gov/gene/TRAPPC2 Dysplasia, Spondyloepiphyseal db key 2008-06 2017-12-29
to be 1 in 150,000 to 200,000 people worldwide. Late-onset spondyloepiphyseal dysplasia GTR C0220776
SED tarda db key
Spondyloepiphyseal Dysplasia GeneReviews sedt
X-linked SED db key
X-linked SEDT ICD-10-CM Q77.7
html:p db key
MeSH D010009
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OMIM 313400
db key
Orphanet 93284
db key
SNOMED CT 51952004
related-gene-list
X-linked thrombocytopenia https://ghr.nlm.nih.gov/condition/x-linked-thrombocytopenia The estimated incidence of X-linked thrombocytopenia is between 1 and 10 html:p X-linked recessive WAS https://ghr.nlm.nih.gov/gene/WAS thrombocytopenia 1 db key 2013-02 2017-12-29
per million males worldwide; this condition is rarer among females. XLT GTR C1839163
db key
GeneReviews was
db key
ICD-10-CM D69.42
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MeSH D013921
db key
OMIM 313900
html:p db key
Orphanet 852
db key
SNOMED CT 37492005
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related-gene-list
Xeroderma pigmentosum https://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum Xeroderma pigmentosum is a rare disorder; it is estimated to affect about 1 html:p autosomal recessive DDB2 https://ghr.nlm.nih.gov/gene/DDB2 DeSanctis-Cacchione syndrome db key 2010-05 2017-12-29
in 1 million people in the United States and Europe. The condition is more related-gene gene-symbol ghr-page XP GTR C0043346
common in Japan, North Africa, and the Middle East. ERCC2 https://ghr.nlm.nih.gov/gene/ERCC2 db key
related-gene gene-symbol ghr-page GTR C0268135
html:p ERCC3 https://ghr.nlm.nih.gov/gene/ERCC3 db key
related-gene gene-symbol ghr-page GTR C0268138
ERCC4 https://ghr.nlm.nih.gov/gene/ERCC4 db key
related-gene gene-symbol ghr-page GTR C0268140
ERCC5 https://ghr.nlm.nih.gov/gene/ERCC5 db key
related-gene gene-symbol ghr-page GTR C0268141
POLH https://ghr.nlm.nih.gov/gene/POLH db key
related-gene gene-symbol ghr-page GTR C1848410
XPA https://ghr.nlm.nih.gov/gene/XPA db key
related-gene gene-symbol ghr-page GTR C1848411
html:p XPC https://ghr.nlm.nih.gov/gene/XPC db key
GTR C1970808
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GTR C2752147
db key
GeneReviews xp
db key
ICD-10-CM Q82.1
db key
html:p MeSH D014983
db key
OMIM 278700
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OMIM 278720
db key
OMIM 278730
html:p db key
OMIM 278740
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OMIM 278750
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OMIM 278760
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OMIM 278780
db key
OMIM 610651
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Orphanet 910
db key
SNOMED CT 1073003
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SNOMED CT 25784009
db key
SNOMED CT 36454001
db key
SNOMED CT 414673004
db key
SNOMED CT 42530008
db key
SNOMED CT 44600005
db key
related-gene-list SNOMED CT 68637004
Y chromosome infertility https://ghr.nlm.nih.gov/condition/y-chromosome-infertility Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 html:p not inherited USP9Y https://ghr.nlm.nih.gov/gene/USP9Y spermatogenic failure, Y-linked db key 2009-01 2017-12-29
males of all ethnic groups. This condition accounts for between 5 percent and 10 memo related-chromosome name ghr-page Y chromosome-related azoospermia GTR C1839071
percent of cases of azoospermia or severe oligospermia. Y-linked Y https://ghr.nlm.nih.gov/chromosome/Y db key
GTR C1839073
db key
html:p GeneReviews yci
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MeSH D007248
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OMIM 400042
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html:p OMIM 415000
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SNOMED CT 236791009
related-gene-list
Yao syndrome https://ghr.nlm.nih.gov/condition/yao-syndrome Yao syndrome has an estimated prevalence of 1 in 10,000 to 1 in 100,000 html:p u pattern unknown NOD2 synonym db-key db key 2017-12 2017-12-29
people worldwide. Studies suggest that it is among the most common systemic synonym GTR C4310620
(affecting the whole body) autoinflammatory diseases in adults. For unknown synonym db-key db key
reasons, Yao syndrome appears to affect women more frequently than men. synonym MeSH D056660
db-key db key
OMIM 617321
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html:p
inheritance-pattern-list related-gene-list
ZAP70-related severe combined immunodeficiency https://ghr.nlm.nih.gov/condition/zap70-related-severe-combined-immunodeficiency ZAP70-related SCID is a rare disorder. Only about 20 affected individuals html:p ar autosomal recessive ghr-page selective T-cell defect db-key db key 2015-04 2017-12-29
have been identified. The prevalence of SCID from all genetic causes combined is https://ghr.nlm.nih.gov/gene/ZAP70 ZAP70-related SCID GTR C1849236
approximately 1 in 50,000. zeta-associated protein 70 deficiency db-key db key
GeneReviews zap70-scid
db-key db key
MeSH D016511
db-key db key
OMIM 176947
db-key db key
Orphanet 911
db-key db key
html:p SNOMED CT 190993005
related-gene-list
Zellweger spectrum disorder https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder Zellweger spectrum disorder is estimated to occur in 1 in 50,000 html:p autosomal recessive PEX1 https://ghr.nlm.nih.gov/gene/PEX1 cerebrohepatorenal syndrome db key 2015-06 2017-12-29
individuals. related-gene gene-symbol ghr-page PBD-ZSD GTR C0043459
PEX2 https://ghr.nlm.nih.gov/gene/PEX2 PBD, ZSS db key
related-gene gene-symbol ghr-page peroxisome biogenesis disorders, Zellweger syndrome spectrum GTR C0282525
PEX3 https://ghr.nlm.nih.gov/gene/PEX3 Zellweger spectrum db key
related-gene gene-symbol ghr-page Zellweger syndrome spectrum GTR C0282527
PEX5 https://ghr.nlm.nih.gov/gene/PEX5 ZSD db key
related-gene gene-symbol ghr-page GTR C1832200
PEX6 https://ghr.nlm.nih.gov/gene/PEX6 db key
related-gene gene-symbol ghr-page GeneReviews pbd
html:p PEX10 https://ghr.nlm.nih.gov/gene/PEX10 db key
related-gene gene-symbol ghr-page ICD-10-CM E71.510
PEX11B https://ghr.nlm.nih.gov/gene/PEX11B db key
related-gene gene-symbol ghr-page ICD-10-CM E71.511
PEX12 https://ghr.nlm.nih.gov/gene/PEX12 db key
related-gene gene-symbol ghr-page ICD-10-CM G60.1
PEX13 https://ghr.nlm.nih.gov/gene/PEX13 db key
related-gene gene-symbol ghr-page MeSH D015211
PEX14 https://ghr.nlm.nih.gov/gene/PEX14 db key
related-gene gene-symbol ghr-page OMIM 202370
PEX16 https://ghr.nlm.nih.gov/gene/PEX16 db key
related-gene gene-symbol ghr-page OMIM 214100
PEX19 https://ghr.nlm.nih.gov/gene/PEX19 db key
related-gene gene-symbol ghr-page OMIM 214110
PEX26 https://ghr.nlm.nih.gov/gene/PEX26 db key
html:p OMIM 266510
db key
OMIM 601539
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OMIM 614859
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OMIM 614862
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OMIM 614866
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OMIM 614870
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OMIM 614872
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OMIM 614876
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OMIM 614882
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OMIM 614883
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OMIM 614886
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OMIM 614887
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OMIM 614920
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Orphanet 44
db key
Orphanet 772
db key
Orphanet 912
db key
Orphanet 79189
db key
SNOMED CT 238061001
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SNOMED CT 238062008
db key
SNOMED CT 88469006